A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980161



Internal ID12981354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:63013473..63117077hg38UCSC Ensembl
Innerchr6:63723378..63826982hg19UCSC Ensembl
Innerchr6:63781337..63884941hg18UCSC Ensembl
Innerchr6:63781337..63884941hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38103605
hg19103605
hg18103605
hg17103605
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34515
Supporting Variants
SamplesNA18965
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980161
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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