A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9804579



Internal ID18639343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr13:111862227..111880179hg38UCSC Ensembl
Innerchr13:112516541..112534493hg19UCSC Ensembl
Cytoband13q34
Allele length
AssemblyAllele length
hg3817953
hg1917953
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3582838
Supporting Variants
Samples400368SD
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=24
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9804579
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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