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. 2015 Mar 3;11(3):e1004139. doi: 10.1371/journal.pcbi.1004139

Table 1. Variant summary.

Variant Type Call Rate Cutoff Mean Error Rate Total Variants Variants Not Passing QC Variants Passing QC
Non-singletons RS SNVs 0.9 0.12% 6,879,488 1,332,939 5,546,549
Insertions 0.9 0.14% 363,973 259,472 104,501
Deletions 0.9 0.13% 352,563 222,185 130,378
Novel SNVs 0.99 0.68% 1,330,086 667,306 662,780
Insertions 0.99 0.97% 577,508 547,690 29,818
Deletions 0.99 0.42% 306,776 232,648 74,128
Singletons RS SNVs 0.99 0.42% 277,650 89,448 188,202
Insertions 0.99 1.37% 28,185 27,089 1,096
Deletions 0.99 0.50% 24,822 21,613 3,209
Novel SNVs 0.99 0.14% 5,522,109 5,302,013 220,096
Insertions 0.9 1.99% 1,756,253 1,728,591 27,662
Deletions 0.99 1.50% 756,632 736,385 20,247
Total SNVs - 0.27% 14,009,333 7,391,706 6,617,627
Insertions - 1.10% 2,725,919 2,562,842 163,077
Deletions - 0.51% 1,440,793 1,212,831 227,962
All Variants - 0.37% 18,176,045 11,167,379 7,008,666

Variants present in 98 Hutterite genome sequences, shown by singleton (one alternative allele among the 98 sequenced samples) vs. non-singletons, by novelty (variants with and without rs numbers in dbSNP135), and by variant type (SNVs, insertions, deletions). Insertions and deletions are called relative to the NCBI build 37 reference human genome. The mean genotyping calling error rate is estimated using IBD2 segments (see text). QC is based on a combination of using CGI high-quality genotype calls and the shown call rate cutoffs.