A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752194



Internal ID12985746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:114824265..114933682hg38UCSC Ensembl
Innerchr8:115836494..115945911hg19UCSC Ensembl
Innerchr8:115905670..116015087hg18UCSC Ensembl
Innerchr8:115905670..116015087hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38109418
hg19109418
hg18109418
hg17109418
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6984513, essv6984512
SamplesBEC_713
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)esv2752194
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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