A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580285



Internal ID18708483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:56993106..57003042hg38UCSC Ensembl
Innerchr12:57386890..57396826hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg389937
hg199937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801405, essv9801408, essv9801406, essv9801404, essv9801407
Samples401733CG, 400558BL, 401687LR, 401494PD, 401981GF
Known GenesGPR182, ZBTB39
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)esv3580285
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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