A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582620



Internal ID18364132
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37924262..38254553hg38UCSC Ensembl
Innerchr17:36283807..36410559hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38330292
hg19126753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv912e212
Supporting Variantsessv9813264, essv9813265, essv9813274, essv9813262, essv9813270, essv9813271, essv9813281, essv9813280, essv9813268, essv9813269, essv9813282, essv9813267, essv9813279
Samples400821FE, 401972BA, 400231LP, 400121PL, 401965TG, 400507VD, 401977ES, 400515ZG, 401563TK, 400571WV, 40050SB, 401056TJ, 401912HD
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)esv3582620
Frequency
Sample Size873
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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