A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752261



Internal ID12985813
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:65076911..65388245hg38UCSC Ensembl
Innerchr8:65989146..66300480hg19UCSC Ensembl
Innerchr8:66151700..66463034hg18UCSC Ensembl
Innerchr8:66151700..66463034hg17UCSC Ensembl
Cytoband8q12.3
Allele length
AssemblyAllele length
hg38311335
hg19311335
hg18311335
hg17311335
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982438, essv6982437, essv6986172, essv6982436, essv6986171
SamplesBEC_442
Known GenesLINC00251
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)esv2752261
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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