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Article

Diversity of human copy number variation and multicopy genes.

Science (New York, N.Y.) - 29 Oct 2010

Sudmant Peter H, Kitzman Jacob O, Antonacci Francesca, Alkan Can, Malig Maika, Tsalenko Anya, Sampas Nick, Bruhn Laurakay, Shendure Jay, Eichler Evan E

Abstract excerpt

Copy number variants affect both disease and normal phenotypic variation, but those lying within heavily duplicated, highly identical sequence have been difficult to assay. By analyzing short-read mapping depth for 159 human genomes, we demonstrated accurate estimation of absolute copy number for...

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Identifiers

PMID: 21030649
DOI: 10.1126/science.1197005
PMCID: PMC3020103

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-21030649-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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