A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580377



Internal ID18708575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94540553..94553364hg38UCSC Ensembl
Innerchr12:94934329..94947140hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3812812
hg1912812
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801869, essv9801863, essv9801870, essv9801865, essv9801868, essv9801864
Samples400268SY, 401385BB, 401393JW, 401939GD, 400173KP, 401882CR
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)esv3580377
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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