A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv512e212



Internal ID20148968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102833817..102843465hg38UCSC Ensembl
chr12:103227595..103237243hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg389649
hg199649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580441, esv3580442, esv3580443
Samples400204SC, 401602PR, 401582GG, 400344DR, 400442FE, 400533BB, 401717LP, 401618HR, 400705KK, 400422PN, 400274TL, 400795CL, 400013TA, 400243CK
Known GenesPAH
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)dgv512e212
Frequency
Sample Size873
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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