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Table 1 Characteristics of all the CNVs from ES with the default ExomeDepth workflow (307 samples)

From: A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

 

Deletions

Duplications

Number of CNVs

24,628

19,976

Number of exons

1 to 470 (mean = 4 (13 kb), median = 2 (968 bp))

1 to 981 (mean = 4 (14 kb), median = 2 (1.4 kb))

Number of CNVs per individual

45 to 210 (mean = 80, median = 78)

34 to 158 (mean = 65, median = 63)

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Genome Medicine

ISSN: 1756-994X

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