A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568813



Internal ID18350325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:62449976..62456214hg38UCSC Ensembl
Innerchr3:62435651..62441889hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg386239
hg196239
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9767184, essv9767183
Samples400704LC, 400977SC
Known GenesCADPS
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)esv3568813
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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