A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv109e212



Internal ID20148565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160014622..160017725hg38UCSC Ensembl
chr1:159984412..159987515hg19UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg383104
hg193104
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578221, esv3578220
Samples400308SP, 40031BA, 401415CB, 401551MB, 400064WJ, 400249BC
Known Genes
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)dgv109e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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