Table 3 The proportion of variant sites in the Ashkenazi reference genome that agree with major alleles from the gnomAD large-scale survey of the Ashkenazi population. Column headers show the frequency ranges of the Ashkenazi alternative alleles (ALT) from the gnomAD database. Row 3 shows the proportion of positions in Ash1 that agree with the gnomAD major allele where gnomAD differs from GRCh38
From: Assembly and annotation of an Ashkenazi human reference genome
Frequency (f) in Ashkenazi population | [0.25, 0.5] | (0.5, 0.6] | (0.6, 0.7] | (0.7, 0.8] | (0.8, 0.9] | (0.9, 1.0] | Total |
|---|---|---|---|---|---|---|---|
Total no. of sites at Ashkenazi ALT allele frequency (f) | 1,706,379 | 442,352 | 369,541 | 300,969 | 252,859 | 424,967 | 3,497,067 |
Proportion of Ash1 sites that match gnomAD Ashkenazi allele | 0.317 | 0.759 | 0.846 | 0.910 | 0.955 | 0.982 | 0.607 |