Table 1
From the following article
Mutational and selective effects on copy-number variants in the human genome
Gregory M Cooper, Deborah A Nickerson & Evan E Eichler
3939, S22 - S29 (2007) Published online: 27 June 2007
doi:10.1038/ng2054
Table 1. Summary of recent analyses of structural variation in the human genome
| Reference | Coverage | Analysis | No. of individuals | No. events or regions | Size range (bp) | Average size (bp) Median size (bp) | Total bp |
|---|---|---|---|---|---|---|---|
NA, not applicable; ROMA, representational oligonucleotide microarray analysis; CEU (Utah residents with ancestry from northern and western Europe); YRI, Yoruba in Ibadan, Nigeria; CHB+JPT, Han Chinese in Beijing, China and Japanese in Tokyo. | |||||||
a39 healthy controls, 16 with karyotype abnormalities. | |||||||
bAccounting for only those sites that showed in two or more individuals. | |||||||
| Mills et al., Genome Res. 2006 | 16 million whole-genome shotgun traces | Alignment of sequence traces from SNP Consortium resequencing | 36 | 415,434 | 1–9,989 | 20 2 | 8,360,235 |
| Conrad et al., Nat. Genet. 2006 | 1.3 million SNPs | HapMap SNP-genotyping data mining based on Mendelian inconsistencies | 180 (60 parent-offspring trios from CEU and YRI populations) | 609 | 25–993,000 | 34,996 17,217 | 21,313,127 |
| McCarroll et al., Nat. Genet. 2006 | 1.3 million SNPs | HapMap SNP-genotyping data mining based on null genotypes, Mendelian inconsistencies and deviations from Hardy-Weinberg equilibrium | 269 (CEU, YRI and CHB+JPT populations, including 60 trios) | 538 | 96–745,418 | 16,874 6,887 | 9,078,084 |
| Hinds et al., Nat. Genet. 2006 | 100 million to 200 million bp | Oligonucleotide array hybridization | 24 | 1,000 | 72–8,001 | 1,379 947 | 137,912 |
| Tuzun et al., Nat. Genet. 2005 |  8 coverage fosmid library | Paired end-sequencing | 1 | 297 | 700–1,944,156 | 55,706 25,230 | 14,984,826 |
| Iafrate et al., Nat. Genet. 2004 | 5,264 BACs | BAC array-CGH | 55a | 246 | 19,597–337,967 | 146,189 150,395 | 35,962,540 |
| Sharp et al., Am. J. Hum. Genet. 2005 | 1,986 BACs | BAC array-CGH | 47 | 124 | 29,514–410,301 | 170,019 164,704 | 21,082,320 |
| Sebat et al., Science 2004 | 85,000 oligonucleotides | ROMA-CGH | 20 | 72 | 754–1,698,859 | 350,670 199,800 | 25,248,203 |
| Wong et al., Am. J. Hum. Genet. 2007 | 26,363 BACs | BAC array-CGH | 105 | 1,365b | 50,459–1,037,332 | 185,504 175,314 | 253,212,685 |
| Redon et al., Nature 2006 | 26,574 BACs | BAC array-CGH | 269 (CEU, YRI and CHB+JPT populations, including 60 trios) | 913 | 2,639–7,378,760 | 349,880 227,889 | 319,440,476 |
| Redon et al., Nature 2006 | 500,000 SNPs | Affyx 500K SNP array analysis | 269 (CEU, YRI and CHB+JPT populations, including 60 trios) | 980 | 1,033–3,605,436 | 165,996 63,140 | 162,675,683 |
| All variations | NA | NA | NA | 323,573 | 1–7,442,054 | 1,901 2 | 615,095,095 |
| All variations >1 kb | NA | NA | NA | 4,131 | 1,004–7,442,053 | 148,578 93,356 | 613,774,371 |
