A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978367



Internal ID12635169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:17092311..17391126hg38UCSC Ensembl
Innerchr7:17131935..17430750hg19UCSC Ensembl
Innerchr7:17098460..17397275hg18UCSC Ensembl
Innerchr7:16905175..17203990hg17UCSC Ensembl
Cytoband7p21.1
Allele length
AssemblyAllele length
hg38298816
hg19298816
hg18298816
hg17298816
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34717
Supporting Variants
SamplesNA19007
Known GenesAHR
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978367
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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