A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581645



Internal ID18363157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40227830..40236865hg38UCSC Ensembl
Innerchr15:40520031..40529066hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg389036
hg199036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731e212
Supporting Variantsessv9808473, essv9808471, essv9808474, essv9808472
Samples401249TP, 401730MS, 402073LQ, 400532MH
Known GenesPAK6
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)esv3581645
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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