A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5076075



Internal ID7819933
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16883108..16941001hg38UCSC Ensembl
Innerchr1:17209603..17267496hg19UCSC Ensembl
Innerchr1:17082190..17140083hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3857894
hg1957894
hg1857894
Variant TypeCNV duplication
Copy Number4
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421455
Supporting Variants
SamplesNA19309
Known GenesCROCC
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)essv5076075
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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