A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1399e212



Internal ID20149855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:107311229..107330398hg38UCSC Ensembl
chr3:107030076..107049245hg19UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg3819170
hg1919170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568955, esv3568952
Samples401913GT, 400532MH
Known GenesLINC00883
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)dgv1399e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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