A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768498



Internal ID18638574
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:146543793..146549875hg38UCSC Ensembl
Innerchr3:146261580..146267662hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg386083
hg196083
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3569042
Supporting Variants
Samples400352CA
Known GenesPLSCR1
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9768498
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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