A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584411



Internal ID18712609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580128..1617447hg38UCSC Ensembl
Innerchr20:1560774..1598093hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3837320
hg1937320
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1224e212
Supporting Variantsessv9819096, essv9819094, essv9819105, essv9819091, essv9819104, essv9819093, essv9819102, essv9819097, essv9819087, essv9819092, essv9819103, essv9819106, essv9819086, essv9819098, essv9819095, essv9819090, essv9819099, essv9819101
Samples401769CR, 401261HD, 400553PP, 401434VN, 401253MC, 400528LR, 401832MC, 401495NR, 401386WA, 401930GD, 400844GP, 401075MN, 400611GG, 401287CF, 400044HS, 401135CS, 400785AK, 401497PR
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)esv3584411
Frequency
Sample Size873
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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