A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752250



Internal ID12985802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:2490791..2724938hg38UCSC Ensembl
Innerchr8:2347907..2582479hg19UCSC Ensembl
Innerchr8:2335314..2569886hg18UCSC Ensembl
Innerchr8:2335314..2569886hg17UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38234148
hg19234573
hg18234573
hg17234573
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv241e55
Supporting Variantsessv6984431, essv6984432, essv6984430, essv6987595
SamplesBEC_705
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)esv2752250
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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