A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568184



Internal ID18696382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36985984..37016217hg38UCSC Ensembl
Innerchr21:38358284..38388517hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg3830234
hg1930234
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9820338, essv9820339
Samples401191MI, 400869BK
Known GenesHLCS, RIPPLY3
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)esv3568184
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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