A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752247



Internal ID12985799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2490787..2710929hg38UCSC Ensembl
Innerchr8:2347903..2568467hg19UCSC Ensembl
Innerchr8:2335310..2555874hg18UCSC Ensembl
Innerchr8:2335310..2555874hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38220143
hg19220565
hg18220565
hg17220565
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241e55
Supporting Variantsessv6985177, essv6987180, essv6988900, essv6985176, essv6985175
SamplesSPC_113
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)esv2752247
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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