A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3572964



Internal ID18354476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37924262..38254714hg38UCSC Ensembl
Innerchr17:36283807..36410720hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38330453
hg19126914
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv911e212
Supporting Variantsessv9813283
Samples400148MS
Known GenesLOC440434, TBC1D3, TBC1D3C, TBC1D3F, TBC1D3H
MethodSNP array
AnalysisWe used four separate algorithms to detect CNVs; Affymetrix Chromosome Analysis Suite (ChAS), iPattern, Nexus and Partek. Our primary analysis was performed based on ChAS CNV calls, which were then supported using the remaining three algorithms to construct a confidence set of CNVs. For all algorithms, we have used 8 probes and >1kb as a base line cutoff for CNV detection.
PlatformAffymetrix CytoScan HD 2.7M array
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3572964
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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