A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580544



Internal ID18362056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130755363..130766345hg38UCSC Ensembl
Innerchr12:131239908..131250890hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3810983
hg1910983
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv529e212
Supporting Variantsessv9802906, essv9802905, essv9802904, essv9802903, essv9802907
Samples400230TB, 400953MR, 400121PL, 401307VR, 401453OL
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)esv3580544
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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