A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv464e212



Internal ID22783391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:19314065..19428357hg38UCSC Ensembl
chr12:19466999..19581291hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg38114293
hg19114293
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581115, esv3581082, esv3581104, esv3581060, esv3581093, esv3581071
Samples400287BP, 400316SL, 401640WJ, 401986LC, 401285HN, 401769CR, 401503MJ, 400627CC, 400994HJ, 401419SW, 400124FR, 400050RL, 401311GL
Known GenesPLEKHA5
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)dgv464e212
Frequency
Sample Size873
Observed Gain13
Observed Loss0
Observed Complex0
Frequencyn/a


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