A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9810435



Internal ID18340863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:21565482..21728953hg38UCSC Ensembl
Innerchr16:21576803..21740274hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38163472
hg19163472
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582094
Supporting Variants
Samples401824MM
Known GenesIGSF6, METTL9, OTOA
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=172
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9810435
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