A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979504



Internal ID12980283
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31275393..31301396hg38UCSC Ensembl
Innerchr6:31243170..31269173hg19UCSC Ensembl
Innerchr6:31351149..31377152hg18UCSC Ensembl
Innerchr6:31351149..31377152hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3826004
hg1926004
hg1826004
hg1726004
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35158
Supporting Variants
SamplesNA18563
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979504
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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