A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582202



Internal ID18363714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:53158227..53174234hg38UCSC Ensembl
Innerchr16:53192139..53208146hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg3816008
hg1916008
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9810897, essv9810896
Samples401064FR, 400328LM
Known GenesCHD9
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)esv3582202
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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