A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1161e212



Internal ID19008369
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:108960370..108969981hg38UCSC Ensembl
chr2:109576826..109586437hg19UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg389612
hg199612
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584006, esv3584007
Samples401177SL, 400207HN
Known GenesEDAR
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)dgv1161e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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