A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9803292



Internal ID18676821
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:54569620..54900359hg38UCSC Ensembl
Innerchr13:55143755..55474494hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg38330740
hg19330740
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580648
Supporting Variants
Samples401490TL
Known Genes
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=256
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9803292
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