A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv507e212



Internal ID19007715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:99600340..99622049hg38UCSC Ensembl
chr12:99994118..100015827hg19UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3821710
hg1921710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580418, esv3580419
Samples400106PC, 401932GN
Known GenesANKS1B
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)dgv507e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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