A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751822



Internal ID12985374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:117215578..117641566hg38UCSC Ensembl
Innerchr2:117973154..118399142hg19UCSC Ensembl
Innerchr2:117689624..118115612hg18UCSC Ensembl
Innerchr2:117689384..118115372hg17UCSC Ensembl
Cytoband2q14.1
Allele length
AssemblyAllele length
hg38425989
hg19425989
hg18425989
hg17425989
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv159e55
Supporting Variantsessv6981178, essv6981180, essv6981179, essv6987922, essv6987921, essv6981177
SamplesBEC_361
Known Genes
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)esv2751822
Frequency
Sample Size771
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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