A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751820



Internal ID12985372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117215578..117363294hg38UCSC Ensembl
Innerchr2:117973154..118120870hg19UCSC Ensembl
Innerchr2:117689624..117837340hg18UCSC Ensembl
Innerchr2:117689384..117837100hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38147717
hg19147717
hg18147717
hg17147717
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv158e55
Supporting Variantsessv6989615, essv6982380, essv6982379
SamplesBEC_431
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751820
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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