A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv521e212



Internal ID22783448
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:117134116..117158173hg38UCSC Ensembl
chr12:117571921..117595978hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3824058
hg1924058
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580486, esv3580492
Samples400599CP, 400987FB, 401498HH, 401426WD, 400225CJ, 400658BW, 400674CA, 400606HW, 401214BJ, 401133JG, 400093BL, 400795CL, 401365DJ, 400996MC, 401053MF
Known GenesFBXO21
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)dgv521e212
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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