A curated catalogue of human genomic structural variation




Variant Details

Variant: esv275260



Internal ID348166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:3780301..3780519hg38UCSC Ensembl
Outerchr2:3777877..3783013hg38UCSC Ensembl
Innerchr2:3827891..3828109hg19UCSC Ensembl
Outerchr2:3825467..3830603hg19UCSC Ensembl
Innerchr2:3805766..3805984hg18UCSC Ensembl
Outerchr2:3803342..3808478hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg385137
hg195137
hg185137
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv2585645, essv2585117
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)esv275260
Frequency
Sample Size1250
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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