A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581984



Internal ID18363496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:7162403..7191827hg38UCSC Ensembl
Innerchr16:7212404..7241828hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3829425
hg1929425
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9809867
Samples401454CD
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)esv3581984
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer