A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5083565



Internal ID7827423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:15544498..15555938hg38UCSC Ensembl
Innerchr8:15402007..15413447hg19UCSC Ensembl
Innerchr8:15446378..15457818hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg3811441
hg1911441
hg1811441
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421337
Supporting Variants
SamplesNA12775
Known GenesTUSC3
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)essv5083565
Frequency
Sample Size1184
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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