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. 2021 Jun 14;108(7):1239–1250. doi: 10.1016/j.ajhg.2021.05.011

Table 1.

Number of variants identified in the study cohort


SNV
Indel
GRCh37 GRCh38 GRCh37 GRCh38
Variants per individual (median count with interquartile range)

Heterozygous 36,496 (1,498) 36,470 (1,513) 2,538 (127) 2,537 (127)
Homozygous 22,570 (803) 22,537 (789) 1,148 (50) 1,002 (50)
Total 59,110 (1,231) 59,060 (1,242) 3,687 (120) 3,542 (121)

Total number of distinct variants across all samples

1,240,896 1,242,297 75,898 75,860