A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581966



Internal ID18363478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6897477..6899508hg38UCSC Ensembl
Innerchr16:6947478..6949509hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382032
hg192032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9809846, essv9809849, essv9809847, essv9809850, essv9809845, essv9809848
Samples400663MD, 401077VC, 401278DM, 401786WD, 400870KC, 401781SL
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)esv3581966
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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