A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768089



Internal ID18330181
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1697374..1756488hg38UCSC Ensembl
Innerchr1:1628813..1687927hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3859115
hg1959115
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3578915
Supporting Variants
Samples401490TL
Known GenesCDK11A, CDK11B, MMP23A, 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
CommentsNumber of probes=37
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9768089
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