A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5018278



Internal ID8125320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:15739232..15773687hg38UCSC Ensembl
Innerchr17:15642546..15677001hg19UCSC Ensembl
Innerchr17:15583271..15617726hg18UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3834456
hg1934456
hg1834456
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421582
Supporting Variants
SamplesNA18503
Known GenesCDRT15P2, TBC1D26
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)essv5018278
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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