A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv273e212



Internal ID20148729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:89213159..89217406hg38UCSC Ensembl
chr10:90972916..90977163hg19UCSC Ensembl
Cytoband10q23.31
Allele length
AssemblyAllele length
hg384248
hg194248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3579062, esv3579063, esv3579064
Samples402016HZ, 400743LS, 400603CJ, 401608GE, 400053LE, 401844ZD
Known GenesLIPA
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)dgv273e212
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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