A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751890



Internal ID12638756
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43576289..43752092hg38UCSC Ensembl
Innerchr2:43803428..43979231hg19UCSC Ensembl
Innerchr2:43656932..43832735hg18UCSC Ensembl
Innerchr2:43715079..43890882hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38175804
hg19175804
hg18175804
hg17175804
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv148e55
Supporting Variantsessv6981617, essv6987988, essv6981618, essv6981619
SamplesBEC_305
Known GenesLOC728819, PLEKHH2, THADA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751890
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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