A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979629



Internal ID12980485
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:115902743..116093334hg38UCSC Ensembl
Innerchr8:116914968..117105559hg19UCSC Ensembl
Innerchr8:116984146..117174737hg18UCSC Ensembl
Innerchr8:116984146..117174737hg17UCSC Ensembl
Cytoband8q23.3
Allele length
AssemblyAllele length
hg38190592
hg19190592
hg18190592
hg17190592
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35019
Supporting Variants
SamplesNA18582
Known GenesLINC00536, MIR6507
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979629
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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