A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810437



Internal ID18292676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21565482..21934724hg38UCSC Ensembl
Innerchr16:21576803..21946045hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38369243
hg19369243
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3570431
Supporting Variants
Samples400368SD
Known GenesIGSF6, METTL9, OTOA, RRN3P1
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=184
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810437
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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