A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568028



Internal ID18349540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:54035510..54045790hg38UCSC Ensembl
Innerchr20:52652049..52662329hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg3810281
hg1910281
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1252e212
Supporting Variantsessv9819804, essv9819805
Samples401612HB, 400124FR
Known GenesBCAS1
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)esv3568028
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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