A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5097990



Internal ID7841848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:43025275..43033007hg38UCSC Ensembl
Innerchr13:43599411..43607143hg19UCSC Ensembl
Innerchr13:42497411..42505143hg18UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg387733
hg197733
hg187733
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421588
Supporting Variants
SamplesNA18603
Known GenesDNAJC15
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)essv5097990
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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