A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582257



Internal ID18710455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:60519407..60541170hg38UCSC Ensembl
Innerchr16:60553311..60575074hg19UCSC Ensembl
Cytoband16q21
Allele length
AssemblyAllele length
hg3821764
hg1921764
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv844e212
Supporting Variantsessv9811168, essv9811164, essv9811166, essv9811172, essv9811171, essv9811169, essv9811165, essv9811170
Samples400926LJ, 400512LR, 402016HZ, 401942MP, 400886MP, 400598DA, 400053LE, 402060PD
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)esv3582257
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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