A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580378



Internal ID18708576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:94597366..94608587hg38UCSC Ensembl
Innerchr12:94991142..95002363hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3811222
hg1911222
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9801871, essv9801872
Samples400631SJ, 400269DA
Known GenesTMCC3
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)esv3580378
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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