A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980581



Internal ID12982666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:240568..365843hg38UCSC Ensembl
Innerchr8:190568..315843hg19UCSC Ensembl
Innerchr8:180568..305843hg18UCSC Ensembl
Innerchr8:180568..305843hg17UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38125276
hg19125276
hg18125276
hg17125276
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34882
Supporting Variants
SamplesNA19211
Known GenesZNF596
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980581
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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