A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20e212



Internal ID19007228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:18250444..18275404hg38UCSC Ensembl
chr1:18576938..18601898hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3824961
hg1924961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3577754, esv3577755
Samples400261RN, 401628GC
Known GenesIGSF21
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)dgv20e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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