A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752240



Internal ID12985792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:136675881..136873905hg38UCSC Ensembl
Innerchr8:137688124..137886148hg19UCSC Ensembl
Innerchr8:137757306..137955330hg18UCSC Ensembl
Innerchr8:137757306..137955330hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38198025
hg19198025
hg18198025
hg17198025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv252e55
Supporting Variantsessv6982238, essv6989594, essv6982240, essv6982239
SamplesBEC_405
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)esv2752240
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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