A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9767405



Internal ID18321325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:87182571..87518398hg38UCSC Ensembl
Innerchr3:87231721..87567548hg19UCSC Ensembl
Cytoband3p11.2
Allele length
AssemblyAllele length
hg38335828
hg19335828
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3568885
Supporting Variants
Samples401239PR
Known GenesCHMP2B, MIR4795, POU1F1
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=396
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9767405
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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