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Letter
Nature Genetics 38, 86 - 92 (2006)
Published online: 4 December 2005; | doi:10.1038/ng1696

Common deletion polymorphisms in the human genome

Steven A McCarroll, Tracy N Hadnott, George H Perry, Pardis C Sabeti, Michael C Zody, Jeffrey C Barrett, Stephanie Dallaire, Stacey B Gabriel, Charles Lee, Mark J Daly, David M Altshuler & The International HapMap Consortium

Supplementary Fig. 1 (pdf 120K)
Physical clustering of patterns of apparent mendelian inconsistency and null genotypes in the HapMap data.

Supplementary Fig. 2 (pdf 188K)
Distinct patterns of aberrant SNP genotypes caused by the same deletion polymorphisms in multiple populations.

Supplementary Fig. 3 (pdf 1M)
Confirmation of segregating deletion variants by fluorescent in situ hybridization (FISH).

Supplementary Fig. 4 (pdf 500K)
Deletion variants flanked by segmental duplications.

Supplementary Fig. 5 (pdf 320K)
Linkage disequilibrium between gene deletion polymorphisms and nearby SNPs.

Supplementary Table 1 (pdf 232K)
Predicted deletion variants and supporting SNP evidence.

Supplementary Table 2 (pdf 20K)
Validation of candidate deletion variants.

Supplementary Table 3 (pdf 68K)
Gene deletion genotypes obtained by quantitative PCR for ten loci in 269 individuals.

Supplementary Table 4 (pdf 16K)
SNP alleles that tag common gene deletion alleles, for potential use in medical genetic studies.

Supplementary Table 5 (pdf 32K)
Primer and probe sequences used.

Supplementary Note (pdf 72K)


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Nature Genetics
ISSN: 1061-4036
EISSN: 1546-1718
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