Table 1.
Autosomes | Chromosome X |
GENCODE regionsa |
|
---|---|---|---|
Samples | 1092 | 1092 | 1092 |
Total raw bases (Gb) | 19,049 | 804 | 327 |
Mean mapped depth (x) | 5.1 | 3.9 | 80.3 |
SNPs | |||
No. sites overall | 36.7 M | 1.3 M | 498 K |
Novelty rateb | 58% | 77% | 50% |
No. Syn / NonSyn / Nonsense |
NA | 4.7 / 6.5 / 0.097 K |
199 / 293 / 6.3 K |
Avg. no. SNPs per sample | 3.60 M | 105 K | 24.0 K |
Indels | |||
No. sites overall | 1.38 M | 59 K | 1,867 |
Novelty rateb | 62% | 73% | 54% |
No. in-frame / frameshift | NA | 19 / 14 | 719 / 1,066 |
Avg. no. indels per sample |
344 K | 13 K | 440 |
Genotyped large deletions | |||
No. sites overall | 13.8 K | 432 | 847 |
Novelty rateb | 54% | 54% | 50% |
Avg. no. variants per sample |
717 | 26 | 39 |
Autosomal genes only.
Compared to dbSNP release 135 (Oct 2011) excluding contribution from Phase 1 1000 Genomes (or equivalent data for large deletions).