A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5006022



Internal ID8174197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:53716600..53726322hg38UCSC Ensembl
Innerchr6:53581398..53591120hg19UCSC Ensembl
Innerchr6:53689357..53699079hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg389723
hg199723
hg189723
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421836
Supporting Variants
SamplesNA19321
Known Genes
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)essv5006022
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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