A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv131e212



Internal ID22783058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:193186312..193188759hg38UCSC Ensembl
chr1:193155442..193157889hg19UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg382448
hg192448
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575394, esv3575383
Samples400493KH, 400523GB, 400360SM, 401812HG
Known GenesB3GALT2, CDC73
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)dgv131e212
Frequency
Sample Size873
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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