A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581883



Internal ID18363395
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:101805322..101811735hg38UCSC Ensembl
Innerchr15:102345525..102351938hg19UCSC Ensembl
Cytoband15q26.3
Allele length
AssemblyAllele length
hg386414
hg196414
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv767e212
Supporting Variantsessv9809602, essv9809601, essv9809603, essv9809607, essv9809606, essv9809600, essv9809604, essv9809605
Samples400855BD, 401965TG, 401725MR, 401892MJ, 400258BC, 400722OM, 401287CF, 401102RD
Known GenesOR4F6
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)esv3581883
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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