A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581644



Internal ID18363156
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:40228576..40237007hg38UCSC Ensembl
Innerchr15:40520777..40529208hg19UCSC Ensembl
Cytoband15q15.1
Allele length
AssemblyAllele length
hg388432
hg198432
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv731e212
Supporting Variantsessv9808485, essv9808487, essv9808484, essv9808486
Samples401117NA, 401812HG, 400881GS, 400782IE
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)esv3581644
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer