A curated catalogue of human genomic structural variation




Variant Details

Variant: esv274924



Internal ID347771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:163035920..163036180hg38UCSC Ensembl
Outerchr2:163032776..163039313hg38UCSC Ensembl
Innerchr2:163892430..163892690hg19UCSC Ensembl
Outerchr2:163889286..163895823hg19UCSC Ensembl
Innerchr2:163600676..163600936hg18UCSC Ensembl
Outerchr2:163597532..163604069hg18UCSC Ensembl
Cytoband2q24.3
Allele length
AssemblyAllele length
hg386538
hg196538
hg186538
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585386, essv2585816
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)esv274924
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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