A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9836208



Internal ID18344957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:189802988..189805065hg38UCSC Ensembl
Innerchr2:190667714..190669791hg19UCSC Ensembl
Cytoband2q32.2
Allele length
AssemblyAllele length
hg382078
hg192078
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3584245
Supporting Variants
Samples401924ST
Known GenesPMS1
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9836208
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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