A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582624



Internal ID18364136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:37924262..38248129hg38UCSC Ensembl
Innerchr17:36283807..36404136hg19UCSC Ensembl
Cytoband17q12
Allele length
AssemblyAllele length
hg38323868
hg19120330
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv912e212
Supporting Variantsessv9813242, essv9813243, essv9813247, essv9813240, essv9813246, essv9813245
Samples401400NP, 400797ST, 401589HP, 401889FR, 400354TJ, 401068SD
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)esv3582624
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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