A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275577



Internal ID348483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:224061127..224063763hg38UCSC Ensembl
Outerchr2:224061009..224066108hg38UCSC Ensembl
Innerchr2:224925844..224928480hg19UCSC Ensembl
Outerchr2:224925726..224930825hg19UCSC Ensembl
Innerchr2:224634088..224636724hg18UCSC Ensembl
Outerchr2:224633970..224639069hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg385100
hg195100
hg185100
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585279, essv2585485
Samples
Known Genes
MethodSNP array
AnalysisIdentification of germline Changes in Copy Number (IgC2N)
PlatformAffymetrix SNP 6.0
Comments
ReferenceBanerjee_et_al_2011
Pubmed ID21479260
Accession Number(s)esv275577
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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