A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421836



Internal ID8252284
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5010584, essv5005718, essv5007410, essv5039642, essv5157412, essv5112066, essv5066303, essv5098029, essv5011037, essv5011757, essv5077889, essv5059734, essv5128735, essv5123510, essv5128691, essv5060826, essv5006022, essv5072044
SamplesNA21403, NA21488, NA21436, NA21741, NA21360, NA21776, NA21478, NA21417, NA21631, NA21485, NA21424, NA21117, NA19321, NA21425, NA21616, NA21361, NA19182, NA21490
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)esv2421836
Frequency
Sample Size1184
Observed Gain18
Observed Loss0
Observed Complex0
Frequencyn/a


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