A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv38e212



Internal ID20148494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54627539..54817638hg38UCSC Ensembl
chr1:55093212..55283311hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg38190100
hg19190100
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578360, esv3578471
Samples401717LP, 400769SL
Known GenesACOT11, C1orf177, MROH7, MROH7-TTC4, PARS2, TTC22, TTC4
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)dgv38e212
Frequency
Sample Size873
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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