A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5111086



Internal ID7854944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46348064..46481604hg38UCSC Ensembl
Innerchr17:44425430..44558970hg19UCSC Ensembl
Innerchr17:41781186..41914286hg18UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38133541
hg19133541
hg18133101
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2421412
Supporting Variants
SamplesNA21631
Known GenesARL17A, ARL17B, NSFP1
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)essv5111086
Frequency
Sample Size1184
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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