Table 1.
Individual | Ploidy | Technology | Av Depth | Total SNPs [M] | Known SNPs [M] (%) | Novel SNPs [M] (%) | Heterozygous SNPs [M] (%) | Homozygous SNPs [M] (%) | cSNPs | nsSNPs | InDels | CNVs (≥100 bp) |
---|---|---|---|---|---|---|---|---|---|---|---|---|
Venter | 2n | Sanger | 7.5× | 3.21 | 2.80 (87.22%) | 0.41 (12.77%) | 1.76 (54.85%) | 1.45 (45.15%) | 21,152 | 6,114 | 214,691 | 6,485 |
Watson | 2n | Roche 454 | 7.4× | 3.32 | 2.71 (81.73%) | 0.61 (18.27%) | 1.67 (50.53%) | 1.64 (49.47%) | 22,041 | 10,659 | 222,718 | 1,674 |
Chinese (YH) | 2n | Illumina | 36.0× | 3.07 | 2.65 (87.13%) | 0.41 (12.87%) | 1.72 (56.03%) | 1.35 (43.97%) | 15,759 | 7,062 | 135,262 | 2,682 |
African (NA18507)* | 2n | Illumina | 40.6× | 3.61 | 2.72 (75.50%) | 0.88 (24.50%) | 2.28 (63.21%) | 1.32 (36.79%) | 26,140 | 5,361 | 404,416 | 8,470 |
African (NA18507)* | 2n | AB SOLiD | 17.9× | 3.86 | 3.13 (81.00%) | 0.73 (19.00%) | 2.33 (60.30%) | 1.53 (39.70%) | 68,624 | 9,902 | 226,529 | 6,714 |
Korean (SJK) | 2n | Illumina | 28.9× | 3.43 | 3.01 (87.79%) | 0.42 (12.21%) | 2.00 (58.21%) | 1.43 (41.79%) | 27,118 | 9,334 | 342,965 | 3,303 |
Korean (AK1) | 2n | Illumina | 27.8× | 3.45 | 2.86 (83.30%) | 0.59 (16.70%) | 2.11 (61.11%) | 1.34 (38.89%) | 21,606 | 10,162 | 170,202 | 414 |
Khoisan (KB1) | 2n | Roche 454 | 10.2× | 4.05 | 3.31 (81.65%) | 0.74 (18.35%) | 2.39 (59.00%) | 1.66 (41.00%) | 22,119 | na | 463,788 | na |
D. Tutu (ABT) | 2n | AB SOLiD | 30.0× | 3.62 | 3.21 (88.61%) | 0.41 (11.39%) | 2.17 (60.00%) | 1.44 (40.00%) | 17,342 | na | 3,395 | na |
Lupski | 2n | AB SOLiD | 29.6× | 3.42 | 2.85 (83.58%) | 0.56 (16.42%) | 2.00 (58.72%) | 1.41 (41.28%) | 18,406 | 9,069 | na | 530 |
Same HapMap sample was independently sequenced and reported using two different technologies.
Abbreviations: cSNPs, coding SNPs; nsSNPs, nonsynonymous SNPs; CNVs, copy-number variants; na, data not available.