A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5108576



Internal ID8139165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:298700..379015hg38UCSC Ensembl
Innerchr6:298700..379015hg19UCSC Ensembl
Innerchr6:243700..324015hg18UCSC Ensembl
Cytoband6p25.3
Allele length
AssemblyAllele length
hg3880316
hg1980316
hg1880316
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421645
Supporting Variants
SamplesNA18747
Known GenesDUSP22
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)essv5108576
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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