A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv89e212



Internal ID20148545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:145211674..145249637hg38UCSC Ensembl
chr1:144336555..144371839hg19UCSC Ensembl
Cytoband1q21.1
Allele length
AssemblyAllele length
hg3837964
hg1935285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569120, esv3569675
Samples401393JW, 400093BL, 401836SI
Known GenesLINC00623, LOC100288142, LOC728875, PPIAL4A, PPIAL4B, PPIAL4C
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)dgv89e212
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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