A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3567949



Internal ID18349461
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:31452694..31464854hg38UCSC Ensembl
Innerchr20:30040497..30052657hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg3812161
hg1912161
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1241e212
Supporting Variantsessv9819423, essv9819418, essv9819420, essv9819419, essv9819424
Samples400683EC, 401899MB, 402063WM, 400207HN, 400177SJ
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)esv3567949
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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