A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3580507



Internal ID18362019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121387834..121408880hg38UCSC Ensembl
Innerchr12:121825637..121846683hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3821047
hg1921047
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv522e212
Supporting Variantsessv9802544, essv9802542, essv9802540, essv9802541, essv9802543
Samples400368SD, 400103BN, 401149VA, 401143LK, 400152MR
Known GenesRNF34
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)esv3580507
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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