A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv436e212



Internal ID20148892
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1345032..1356865hg38UCSC Ensembl
chr12:1454198..1466031hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3811834
hg1911834
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580036, esv3580035
Samples401594MP, 401714BM
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)dgv436e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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