A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9797246



Internal ID18671575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:50138018..50614698hg38UCSC Ensembl
Innerchr11:50097189..50573869hg19UCSC Ensembl
Cytoband11p11.12
Allele length
AssemblyAllele length
hg38476681
hg19476681
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578760
Supporting Variants
Samples401346FJ
Known GenesLOC441601, LOC646813
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=245
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9797246
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