title: Global variation in copy number in the human genome.
abstract: Copy number variation (CNV) of DNA sequences is functionally significant but has yet to be fully ascertained. We have constructed a first-generation CNV map of the human genome through the study of 270 individuals from four populations with ancestry in Europe, Africa or Asia (the HapMap collection). DNA from these individuals was screened for CNV using two complementary technologies: single-nucleotide polymorphism (SNP) genotyping arrays, and clone-based comparative genomic hybridization. A total of 1,447 copy number variable regions (CNVRs), which can encompass overlapping or adjacent gains or losses, covering 360 megabases (12% of the genome) were identified in these populations. These CNVRs contained hundreds of genes, disease loci, functional elements and segmental duplications. Notably, the CNVRs encompassed more nucleotide content per genome than SNPs, underscoring the importance of CNV in genetic diversity and evolution. The data obtained delineate linkage disequilibrium patterns for many CNVs, and reveal marked variation in copy number among populations. We also demonstrate the utility of this resource for genetic disease studies.
authors.affiliation: The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
authors.forename: Richard
authors.initials: R
authors.lastname: Redon
authors.forename: Shumpei
authors.initials: S
authors.lastname: Ishikawa
authors.forename: Karen R
authors.initials: KR
authors.lastname: Fitch
authors.forename: Lars
authors.initials: L
authors.lastname: Feuk
authors.forename: George H
authors.initials: GH
authors.lastname: Perry
authors.forename: T Daniel
authors.initials: TD
authors.lastname: Andrews
authors.forename: Heike
authors.initials: H
authors.lastname: Fiegler
authors.forename: Michael H
authors.initials: MH
authors.lastname: Shapero
authors.forename: Andrew R
authors.initials: AR
authors.lastname: Carson
authors.forename: Wenwei
authors.initials: W
authors.lastname: Chen
authors.forename: Eun Kyung
authors.initials: EK
authors.lastname: Cho
authors.forename: Stephanie
authors.initials: S
authors.lastname: Dallaire
authors.forename: Jennifer L
authors.initials: JL
authors.lastname: Freeman
authors.forename: Juan R
authors.initials: JR
authors.lastname: González
authors.forename: Mònica
authors.initials: M
authors.lastname: Gratacòs
authors.forename: Jing
authors.initials: J
authors.lastname: Huang
authors.forename: Dimitrios
authors.initials: D
authors.lastname: Kalaitzopoulos
authors.forename: Daisuke
authors.initials: D
authors.lastname: Komura
authors.forename: Jeffrey R
authors.initials: JR
authors.lastname: MacDonald
authors.forename: Christian R
authors.initials: CR
authors.lastname: Marshall
authors.forename: Rui
authors.initials: R
authors.lastname: Mei
authors.forename: Lyndal
authors.initials: L
authors.lastname: Montgomery
authors.forename: Kunihiro
authors.initials: K
authors.lastname: Nishimura
authors.forename: Kohji
authors.initials: K
authors.lastname: Okamura
authors.forename: Fan
authors.initials: F
authors.lastname: Shen
authors.forename: Martin J
authors.initials: MJ
authors.lastname: Somerville
authors.forename: Joelle
authors.initials: J
authors.lastname: Tchinda
authors.forename: Armand
authors.initials: A
authors.lastname: Valsesia
authors.forename: Cara
authors.initials: C
authors.lastname: Woodwark
authors.forename: Fengtang
authors.initials: F
authors.lastname: Yang
authors.forename: Junjun
authors.initials: J
authors.lastname: Zhang
authors.forename: Tatiana
authors.initials: T
authors.lastname: Zerjal
authors.forename: Jane
authors.initials: J
authors.lastname: Zhang
authors.forename: Lluis
authors.initials: L
authors.lastname: Armengol
authors.forename: Donald F
authors.initials: DF
authors.lastname: Conrad
authors.forename: Xavier
authors.initials: X
authors.lastname: Estivill
authors.forename: Chris
authors.initials: C
authors.lastname: Tyler-Smith
authors.forename: Nigel P
authors.initials: NP
authors.lastname: Carter
authors.forename: Hiroyuki
authors.initials: H
authors.lastname: Aburatani
authors.forename: Charles
authors.initials: C
authors.lastname: Lee
authors.forename: Keith W
authors.initials: KW
authors.lastname: Jones
authors.forename: Stephen W
authors.initials: SW
authors.lastname: Scherer
authors.forename: Matthew E
authors.initials: ME
authors.lastname: Hurles
mesh_terms: D002874:Chromosome Mapping; D018628:Gene Dosage; D014644:Genetic Variation; D005828:Genetics, Population; D015894:Genome, Human; D023281:Genomics / Q000379:methods; D005838:Genotype; D006801:Humans; D015810:Linkage Disequilibrium; D025202:Molecular Diagnostic Techniques; D020411:Oligonucleotide Array Sequence Analysis / Q000379:methods; D020641:Polymorphism, Single Nucleotide