A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9809512



Internal ID18308230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101684138..101771043hg38UCSC Ensembl
Innerchr15:102224341..102311246hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg3886906
hg1986906
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569953
Supporting Variants
Samples400836LK
Known GenesTARSL2
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=266
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9809512
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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