A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582292



Internal ID18710490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:71321397..71331646hg38UCSC Ensembl
Innerchr16:71355300..71365549hg19UCSC Ensembl
Cytoband16q22.2
Allele length
AssemblyAllele length
hg3810250
hg1910250
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9811252, essv9811247, essv9811241, essv9811249, essv9811244, essv9811242, essv9811248, essv9811239, essv9811246, essv9811243, essv9811238, essv9811251, essv9811250, essv9811237, essv9811240
Samples401602PR, 401500OM, 401253MC, 401926MR, 400871CM, 400032RC, 401818PC, 400653GP, 401377MA, 400007RG, 401892MJ, 401369GR, 401958MF, 401012TP, 400328LM
Known Genes
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)esv3582292
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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