A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9808514



Internal ID18284351
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:43604053..43703698hg38UCSC Ensembl
Innerchr15:43896251..43995896hg19UCSC Ensembl
Cytoband15q15.3
Allele length
AssemblyAllele length
hg3899646
hg1999646
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569542
Supporting Variants
Samples400152MR
Known GenesCATSPER2, CKMT1A, 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
CommentsNumber of probes=60
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9808514
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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