A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568196



Internal ID18696394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:40064757..40070854hg38UCSC Ensembl
Innerchr21:41436684..41442781hg19UCSC Ensembl
Cytoband21q22.2
Allele length
AssemblyAllele length
hg386098
hg196098
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1272e212
Supporting Variantsessv9820405
Samples400203NA
Known GenesDSCAM
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)esv3568196
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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