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Widening the spectrum of human genetic variation

SNP genotyping platforms have been used to discover 1,000 deletion structural variants within the human genome, with median lengths ranging from 500 bp to 10.5 kb. Analyses of a subset of these provide compelling evidence of linkage disequilibrium with flanking SNPs.

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Figure 1: Comparison of studies of structural human genome variation.

Katie Ris

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Eichler, E. Widening the spectrum of human genetic variation. Nat Genet 38, 9–11 (2006). https://doi.org/10.1038/ng0106-9

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