A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv490e212



Internal ID20148946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:69357707..69370365hg38UCSC Ensembl
chr12:69751487..69764145hg19UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3812659
hg1912659
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580310, esv3580311
Samples401136LB, 400213DB, 401592NR, 401377MA
Known GenesYEATS4
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)dgv490e212
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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