A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752267



Internal ID12985819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:77749351..78083759hg38UCSC Ensembl
Innerchr8:78661586..78995994hg19UCSC Ensembl
Innerchr8:78824141..79158549hg18UCSC Ensembl
Innerchr8:78824141..79158549hg17UCSC Ensembl
Cytoband8q21.12
Allele length
AssemblyAllele length
hg38334409
hg19334409
hg18334409
hg17334409
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6982363, essv6989614, essv6982364, essv6982362
SamplesBEC_427
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)esv2752267
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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