A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582132



Internal ID18710330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32027373..32559611hg38UCSC Ensembl
Innerchr16:32038694..32570932hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38532239
hg19532239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv815e212
Supporting Variantsessv9810513, essv9810512
Samples400439IM, 400337HG
Known GenesHERC2P4, LOC390705, TP53TG3D
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)esv3582132
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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