A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv498e212



Internal ID20148954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:92727118..92938306hg38UCSC Ensembl
chr12:93120894..93332082hg19UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg38211189
hg19211189
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581805, esv3581793
Samples400994HJ, 400014SL
Known GenesEEA1, PLEKHG7
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)dgv498e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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