A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581137



Internal ID18362649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1715878..1756235hg38UCSC Ensembl
Innerchr1:1647317..1687674hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3840358
hg1940358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5e212
Supporting Variantsessv9768311
Samples401820SD
Known GenesCDK11A, CDK11B, NADK, SLC35E2
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)esv3581137
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