A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810520



Internal ID18626745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32027373..34109857hg38UCSC Ensembl
Innerchr16:32038694..33912324hg19UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg382082485
hg191873631
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570487
Supporting Variants
Samples400059SV
Known GenesHERC2P4, LOC390705, RNU6-76P, SLC6A10P, TP53TG3, TP53TG3B, TP53TG3C, 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
CommentsNumber of probes=188
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810520
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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