A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980208



Internal ID12634752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:90089111..90166898hg38UCSC Ensembl
Innerchr8:91101339..91179126hg19UCSC Ensembl
Innerchr8:91170515..91248302hg18UCSC Ensembl
Innerchr8:91170515..91248302hg17UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg3877788
hg1977788
hg1877788
hg1777788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34347
Supporting Variants
SamplesNA18968
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980208
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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