A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580487



Internal ID18361999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:117134116..117143047hg38UCSC Ensembl
Innerchr12:117571921..117580852hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg388932
hg198932
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv519e212
Supporting Variantsessv9802493, essv9802494
Samples400136DM, 400930MK
Known Genes
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)esv3580487
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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