A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580861



Internal ID18709059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:100565998..100569596hg38UCSC Ensembl
Innerchr13:101218252..101221850hg19UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg383599
hg193599
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9804347, essv9804338, essv9804360, essv9804327, essv9804350, essv9804334, essv9804345, essv9804324, essv9804328, essv9804340, essv9804357, essv9804353, essv9804325, essv9804362, essv9804326, essv9804330, essv9804339, essv9804358, essv9804351, essv9804346, essv9804343, essv9804368, essv9804332, essv9804369, essv9804370, essv9804336, essv9804363, essv9804341, essv9804335, essv9804337, essv9804354, essv9804359, essv9804364, essv9804356, essv9804348, essv9804352, essv9804365, essv9804329, essv9804349, essv9804342, essv9804371, essv9804331, essv9804367, essv9804361
Samples400618GC, 401852SK, 401146US, 400455SJ, 401487FW, 400970VE, 401415CB, 401117NA, 401841OB, 400625FT, 401733CG, 400191MP, 401030GI, 400493KH, 401582GG, 400523GB, 400528LR, 400606HW, 400022WA, 400460DM, 401566DD, 400427SD, 401620BA, 400041LJ, 401448BJ, 401732HW, 401526WB, 400829MR, 401864CV, 401879HJ, 402074RR, 401200BD, 401778CB, 400845ML, 401844ZD, 400235MP, 400323AA, 400084DM, 400833BB, 400261RN, 401458RT, 400266BA, 400291VJ, 401497PR
Known GenesGGACT
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)esv3580861
Frequency
Sample Size873
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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