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. Author manuscript; available in PMC: 2013 May 17.
Published in final edited form as: Annu Rev Med. 2012;63:35–61. doi: 10.1146/annurev-med-051010-162644

Table 1.

Comparison of sequenced personal human genomes

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.