A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984512



Internal ID12977088
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 StatusS
Merged Variantsesv2752194
Supporting Variants
SamplesBEC_713
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984512
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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