A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581986



Internal ID18363498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7451573..7453931hg38UCSC Ensembl
Innerchr16:7501574..7503932hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382359
hg192359
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv786e212
Supporting Variantsessv9809870, essv9809871, essv9809869
Samples401500OM, 400240HJ, 401655DC
Known GenesRBFOX1
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)esv3581986
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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