A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9815234



Internal ID18305207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:66413661..66485920hg38UCSC Ensembl
Innerchr17:64409779..64482038hg19UCSC Ensembl
Cytoband17q24.2
Allele length
AssemblyAllele length
hg3872260
hg1972260
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582875
Supporting Variants
Samples400737GC
Known GenesPRKCA
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=140
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9815234
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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