A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580176



Internal ID18361688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:20811785..20814533hg38UCSC Ensembl
Innerchr12:20964719..20967467hg19UCSC Ensembl
Cytoband12p12.2
Allele length
AssemblyAllele length
hg382749
hg192749
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9800802, essv9800799, essv9800804, essv9800803, essv9800801, essv9800805, essv9800798
Samples400240HJ, 400205SP, 400038CK, 400352CA, 400325BE, 401390DG, 400138LA
Known GenesSLCO1B3
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)esv3580176
Frequency
Sample Size873
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer