A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584417



Internal ID18712615
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1576531..1609599hg38UCSC Ensembl
Innerchr20:1557177..1590245hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3833069
hg1933069
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1224e212
Supporting Variantsessv9818652, essv9818653, essv9818651, essv9818649, essv9818648, essv9818650
Samples401857VG, 400937OR, 401746WW, 401346FJ, 401268PS, 400291VJ
Known GenesSIRPB1
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)esv3584417
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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