A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581652



Internal ID18363164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43596064..43692732hg38UCSC Ensembl
Innerchr15:43888262..43984930hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3896669
hg1996669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv732e212
Supporting Variantsessv9808507, essv9808509
Samples401596PJ, 400458LS
Known GenesCATSPER2, CKMT1B, RNU6-28P, STRC
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)esv3581652
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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