A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv435e212



Internal ID20148891
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1197629..1213988hg38UCSC Ensembl
chr12:1306795..1323154hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3816360
hg1916360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580029, esv3580031
Samples401900RJ, 401361GG, 401861GG
Known GenesERC1
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)dgv435e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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