A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582991



Internal ID18711189
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:26990703..26997059hg38UCSC Ensembl
Innerchr18:24570667..24577023hg19UCSC Ensembl
Cytoband18q11.2
Allele length
AssemblyAllele length
hg386357
hg196357
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9815502, essv9815512, essv9815501, essv9815504, essv9815505, essv9815509, essv9815511, essv9815508, essv9815513, essv9815514, essv9815516, essv9815503, essv9815507, essv9815500, essv9815498, essv9815515, essv9815506
Samples401302LJ, 401355CD, 401006ES, 400582WS, 401764JJ, 401251WN, 400070PC, 400050RL, 400171BJ, 401875FG, 401514BA, 401922MW, 402073LQ, 401628GC, 400266BA, 401932GN, 401068SD
Known GenesCHST9
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)esv3582991
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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