A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9768200



Internal ID18306493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1710651..1756135hg38UCSC Ensembl
Innerchr1:1642090..1687574hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3845485
hg1945485
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3580026
Supporting Variants
Samples400785AK
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
CommentsNumber of probes=33
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9768200
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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