A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5120644



Internal ID7864502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:43403599..43417675hg38UCSC Ensembl
Innerchr21:44823479..44837555hg19UCSC Ensembl
Innerchr21:43647907..43661983hg18UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3814077
hg1914077
hg1814077
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421642
Supporting Variants
SamplesNA12056
Known GenesSIK1
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)essv5120644
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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