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Article

Common deletion polymorphisms in the human genome.

Nature genetics - 1 Jan 2006

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

Abstract excerpt

The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to data from the International HapMap Consortium to characterize and catalogue segregating deletion variants across the human genome. We identified 541 deletion variants (94% novel) ranging from 1 kb to 745 kb...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 16468122
DOI: 10.1038/ng1696

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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