A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752252



Internal ID12985804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:36661835..36764070hg38UCSC Ensembl
Innerchr8:36519353..36621588hg19UCSC Ensembl
Innerchr8:36638511..36740746hg18UCSC Ensembl
Innerchr8:36638511..36740746hg17UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38102236
hg19102236
hg18102236
hg17102236
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989517, essv6981789
SamplesBEC_468
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)esv2752252
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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