A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752207



Internal ID12985759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:121857412..121949609hg38UCSC Ensembl
Innerchr8:122869651..122961848hg19UCSC Ensembl
Innerchr8:122938832..123031029hg18UCSC Ensembl
Innerchr8:122938832..123031029hg17UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3892198
hg1992198
hg1892198
hg1792198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984304, essv6989941
SamplesBEC_687
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752207
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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