Table 1 |
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|
Indel density (for all 44 ENCODE regions) |
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| ENCODE region |
Chromosome |
Number of indels |
Indels (bp) |
Size (bp) |
Density (per 100 kb) |
Density (bp per 100 kb) |
Gene (bp%) |
Val. SNP (per 100 kb) |
SNP:indel |
|
|
|
||||||||||
| (per 100 kb) |
(bp/100 kb) |
|||||||||
|
|
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| Overall |
4,486 |
13,010 |
29,998,060 |
15.0 |
43.4 |
2.2 |
102.4 |
6.7 |
2.4 |
|
| 1: ENm001 CFTR |
7 |
189 |
533 |
1,877,426 |
10.1 |
28.4 |
1.2 |
64.5 |
5.8 |
2.3 |
| 2: ENm002 Interleukin |
5 |
139 |
535 |
1,000,000 |
13.9 |
53.5 |
3.0 |
101.1 |
6.6 |
1.9 |
| 3: ENm003 ApoCluster |
11 |
59 |
187 |
500,000 |
11.8 |
37.4 |
2.1 |
93.2 |
8.4 |
2.5 |
| 4: ENm004 |
22 |
289 |
789 |
1,700,000 |
17.0 |
46.4 |
2.1 |
89.7 |
4.9 |
1.9 |
| 5: ENm005 |
21 |
368 |
982 |
1,695,985 |
21.7 |
57.9 |
2.4 |
108.1 |
4.3 |
1.9 |
| 6: ENm006 |
X |
97 |
249 |
1,338,447 |
7.2 |
18.6 |
5.5 |
34.5 |
7.4 |
1.9 |
| 7: ENm007 |
19 |
207 |
711 |
1,000,876 |
20.7 |
71.0 |
4.9 |
151.6 |
7.8 |
2.1 |
| 8: ENm008 AlphaGlobin |
16 |
118 |
253 |
500,000 |
23.6 |
50.6 |
5.2 |
120.2 |
5.0 |
2.4 |
| 9: ENm009 BetaGlobin |
11 |
168 |
545 |
1,001,592 |
16.8 |
54.4 |
4.2 |
181.4 |
10.9 |
3.3 |
| 10: ENm010 HOXACluster |
7 |
95 |
317 |
500,000 |
19.0 |
63.4 |
2.4 |
89.4 |
4.5 |
1.4 |
| 11: ENm011 1GF2H19 |
11 |
62 |
228 |
606,048 |
10.2 |
37.6 |
2.1 |
102.3 |
13.4 |
2.7 |
| 12: ENm012 FOXP2 |
7 |
128 |
370 |
1,000,000 |
12.8 |
37.0 |
0.3 |
73.2 |
5.9 |
2.0 |
| 13: ENm013 |
7 |
139 |
483 |
1,114,424 |
12.5 |
43.3 |
1.0 |
105.7 |
7.7 |
2.4 |
| 14: ENm014 |
7 |
128 |
322 |
1,163,197 |
11.0 |
27.7 |
0.8 |
83.4 |
7.6 |
3.0 |
| Manual |
2,186 |
6,504 |
14,997,995 |
14.6 |
43.4 |
2.7 |
95.9 |
6.5 |
2.2 |
|
| 15: ENr111 |
13 |
96 |
364 |
500,000 |
19.2 |
72.8 |
0.3 |
128.2 |
5.7 |
1.8 |
| 16: ENr112 |
2 |
55 |
156 |
500,000 |
11.0 |
31.2 |
0.0 |
94.2 |
10.6 |
3.0 |
| 17: ENr113 |
4 |
56 |
152 |
500,000 |
11.2 |
30.4 |
0.1 |
104.0 |
9.6 |
3.4 |
| 18: ENr114 |
10 |
101 |
284 |
500,000 |
20.2 |
56.8 |
1.0 |
142.8 |
8.5 |
2.5 |
| 19: ENr121 |
2 |
108 |
270 |
500,000 |
21.6 |
54.0 |
0.8 |
140.0 |
6.1 |
2.6 |
| 20: ENr122 |
18 |
76 |
287 |
500,000 |
15.2 |
57.4 |
1.9 |
139.8 |
8.2 |
2.4 |
| 21: ENr123 |
12 |
65 |
136 |
500,000 |
13.0 |
27.2 |
2.5 |
122.0 |
9.2 |
4.5 |
| 22: ENr131 |
2 |
75 |
202 |
500,064 |
15.0 |
40.4 |
3.6 |
123.4 |
6.9 |
3.1 |
| 23: ENr132 |
13 |
43 |
169 |
500,000 |
8.6 |
33.8 |
1.9 |
123.8 |
14.5 |
3.7 |
| 24: ENr133 |
21 |
112 |
293 |
500,000 |
22.4 |
58.6 |
2.2 |
165.0 |
6.3 |
2.8 |
| 25: ENr211 |
16 |
68 |
251 |
500,001 |
13.6 |
50.2 |
0.1 |
114.8 |
8.8 |
2.3 |
| 26: ENr212 |
5 |
70 |
118 |
500,000 |
14.0 |
23.6 |
0.3 |
112.6 |
7.6 |
4.8 |
| 27: ENr213 |
18 |
74 |
165 |
500,000 |
14.8 |
33.0 |
0.6 |
91.8 |
6.0 |
2.8 |
| 28: ENr221 |
5 |
68 |
156 |
500,000 |
13.6 |
31.2 |
1.4 |
105.0 |
6.9 |
3.4 |
| 29: ENr222 |
6 |
73 |
201 |
500,000 |
14.6 |
40.2 |
0.9 |
104.0 |
6.4 |
2.6 |
| 30: ENr223 |
6 |
130 |
384 |
500,000 |
26.0 |
76.8 |
2.2 |
135.2 |
4.5 |
1.8 |
| 31: ENr231 |
1 |
91 |
178 |
500,000 |
18.2 |
35.6 |
4.8 |
94.6 |
4.9 |
2.7 |
| 32: ENr232 |
9 |
93 |
282 |
500,000 |
18.6 |
56.4 |
3.2 |
112.0 |
5.8 |
2.0 |
| 33: ENr233 |
15 |
47 |
126 |
500,000 |
9.4 |
25.2 |
7.3 |
59.8 |
7.4 |
2.4 |
| 34: ENr311 |
14 |
50 |
171 |
500,000 |
10.0 |
34.2 |
0.0 |
93.0 |
8.8 |
2.7 |
| 35: ENr312 |
11 |
54 |
176 |
500,000 |
10.8 |
35.2 |
0.0 |
142.0 |
12.2 |
4.0 |
| 36: ENr313 |
16 |
83 |
242 |
500,000 |
16.6 |
48.4 |
0.0 |
108.4 |
6.4 |
2.2 |
| 37: ENr321 |
8 |
84 |
257 |
500,000 |
16.8 |
51.4 |
0.4 |
94.0 |
4.6 |
1.8 |
| 38: ENr322 |
14 |
86 |
323 |
500,000 |
17.2 |
64.6 |
0.8 |
127.6 |
7.3 |
2.0 |
| 39: ENr323 |
6 |
77 |
176 |
500,000 |
15.4 |
35.2 |
0.7 |
78.8 |
4.7 |
2.2 |
| 40: ENr324 |
X |
70 |
138 |
500,000 |
14.0 |
27.6 |
1.3 |
43.8 |
4.3 |
1.6 |
| 41: ENr331 |
2 |
67 |
204.0 |
500,000 |
13.4 |
40.8 |
6.4 |
118.8 |
8.4 |
2.9 |
| 42: ENr332 |
11 |
60 |
184 |
500,000 |
12.0 |
36.8 |
6.5 |
88.6 |
7.6 |
2.4 |
| 43: ENr333 |
20 |
89 |
226 |
500,000 |
17.8 |
45.2 |
6.1 |
77.2 |
4.0 |
1.7 |
| 44: ENr334 |
6 |
79 |
235 |
500,000 |
15.8 |
47.0 |
2.2 |
83.4 |
5.4 |
1.8 |
|
|
||||||||||
| Random |
2,300 |
6,506 |
15,000,065 |
15.3 |
43.4 |
2.0 |
109.0 |
6.9 |
2.5 |
|
|
|
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|
Manual (regions 1-14; each approx. 500 kb-2 MB) and random (regions 15-44 each approx. 500 kb) selected ENCODE regions are defined [12] as: Manual: genomic regions with well studied genes and availability of comparative sequence Random: selected randomly across the genome, stratified by gene density and non-exonic conservation The ten Encyclopedia of DNA Elements (ENCODE) regions with in-depth single nucleotide polymorphism (SNP) discovery are ENm010, ENm013, ENm014, ENr112, ENr113, ENr123, ENr131, ENr213, ENr232, and ENr321. bp, base pairs; kb, kilobases. |
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|
Clark et al. Genome Biology 2007 8:R180 doi:10.1186/gb-2007-8-9-r180 |
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