A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9822711



Internal ID18340904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:45181796..45749281hg38UCSC Ensembl
Innerchr2:45408935..45976420hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38567486
hg19567486
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3575240
Supporting Variants
Samples401824MM
Known GenesLINC01121, PRKCE, SRBD1
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=548
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9822711
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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