Table 4

Summary of events at CNV regions discovered by sequencing

Confirmed CNVs

Confirmed < 1 kb

Levy + Wheeler

Levy_only

Wheeler_only

Reported CNVs

221

1,753

957

with YRI events

6,368

1,107

172

1,651

740

% with events

77.8%

94.2%

77.3%

Median length

4,380 bp

490 bp

193 bp

190 bp

240 bp

25th percentile

1,519 bp

290 bp

110 bp

120 bp

120 bp

75th percentile

13,230 bp

735 bp

849 bp

380 bp

974 bp

Events

97,953

27,718

4056

40,968

13,968

Events per region

15.4

25.0

23.6

24.8

18.9

Homozygous loss (0)

5,792

2,177

321

1,004

1,092

One copy loss (1)

55,593

14,335

1,792

20,353

6,882

One copy gain (3)

31,198

9,082

1,415

16,926

4,879

Multiple gains (4+)

5,370

2,124

528

2,685

1,115

Loss:gain

1.7

1.5

1.1

1.1

1.3

Regions are from the Levy et al. [18] and Wheeler et al. [19] whole-genome sequencing studies. Levy+Wheeler refers to regions common to both studies, while Levy_only and Wheeler_only are regions reported only in either study. Regions that overlap any of the putative CNVs from the genome-scan were not included in these three sets. Reported refers to the numbers of CNVs discovered in the studies. 'With events' is the tally of reported regions having at least one observed event on the CNV-typing array, and 'events' is the tally from all 90 Yoruba at all regions. The events are broken down by tallies of integer copy number calls, where 0 is homozygous loss, 1 and 3 are heterozygous loss and gain, and 4+ is the tally of multiple gains. 'Loss:gain' is the ratio of loss and gain event tallies.

Matsuzaki et al. Genome Biology 2009 10:R125   doi:10.1186/gb-2009-10-11-r125