A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583684



Internal ID18711882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:28588264..28593119hg38UCSC Ensembl
Innerchr2:28811131..28815986hg19UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg384856
hg194856
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1106e212
Supporting Variantsessv9816621, essv9816610, essv9816645, essv9816632, essv9816599
Samples401400NP, 401734PG, 401596PJ, 401287CF, 400091BS
Known GenesPLB1
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)esv3583684
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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