Table 3.
GRCh37 | GRCh38 | |||||||
---|---|---|---|---|---|---|---|---|
Chromosome | All | Common | Rare | Phred | All | Common | Rare | Phred |
1 | 344158 | 299500 | 44659 | 503.42 | 359530 | 291704 | 67825 | 473.83 |
2 | 354113 | 247585 | 106528 | 506.54 | 361469 | 243400 | 118069 | 492.91 |
3 | 295447 | 268021 | 27426 | 503.76 | 301985 | 263993 | 37993 | 492.99 |
4 | 319988 | 290080 | 29908 | 515.41 | 324134 | 285405 | 38729 | 507.33 |
5 | 266077 | 235462 | 30615 | 498.58 | 272482 | 231747 | 40734 | 485.57 |
6 | 280789 | 252705 | 28084 | 495.02 | 279132 | 246545 | 32588 | 487.11 |
7 | 249980 | 220543 | 29437 | 488.95 | 257917 | 216669 | 41248 | 475.69 |
8 | 229332 | 204823 | 24509 | 499.70 | 229541 | 200845 | 28696 | 490.15 |
9 | 192615 | 162202 | 30413 | 475.09 | 200034 | 159119 | 40916 | 466.46 |
10 | 217957 | 194385 | 23572 | 508.74 | 229352 | 190658 | 38694 | 494.18 |
11 | 219134 | 197412 | 21722 | 522.84 | 228324 | 194132 | 34192 | 498.04 |
12 | 205085 | 184477 | 20608 | 502.78 | 212789 | 175990 | 36799 | 483.94 |
13 | 166128 | 151271 | 14856 | 530.31 | 180521 | 148870 | 31651 | 494.65 |
14 | 141971 | 124790 | 17181 | 503.15 | 140443 | 122524 | 17919 | 495.75 |
15 | 130324 | 112085 | 18239 | 505.95 | 131389 | 109741 | 21648 | 493.46 |
16 | 134293 | 116224 | 18069 | 487.40 | 136799 | 113589 | 23210 | 473.36 |
17 | 118096 | 102300 | 15796 | 479.64 | 130637 | 99074 | 31563 | 452.99 |
18 | 124509 | 111958 | 12552 | 516.80 | 132628 | 110349 | 22279 | 485.89 |
19 | 98104 | 84416 | 13688 | 456.51 | 99625 | 82875 | 16750 | 455.35 |
20 | 90490 | 79709 | 10781 | 486.09 | 112562 | 78562 | 33999 | 475.40 |
21 | 69511 | 55211 | 14300 | 525.23 | 73027 | 53052 | 19975 | 513.27 |
22 | 59660 | 50242 | 9418 | 455.99 | 71112 | 48961 | 22151 | 445.27 |
Total | 4307761 | 4465432 |
The mean counts of autosomal variants and the median Phred scores per chromosome are shown for GRCh37 and GRCh38.
Columns: All: all detected variants; Common: listed in dbSNP common_all_*; Rare: variants that are not common.
The mean variant counts for chromosome X were 127,914 (GRCh37) and 132,177 (GRCh38). For chromosome Y, the mean counts could not be estimated since gender information was not available for all of the 121 in-house genomes. Both genome releases include the identical mitochondrial reference (NC_012920.1) with 27 variants