A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99e212



Internal ID20148555
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:144355479..144478408hg38UCSC Ensembl
chr1:148539255..148662197hg19UCSC Ensembl
Cytoband1q21.2
Allele length
AssemblyAllele length
hg38122930
hg19122943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578169, esv3578168
Samples401480PG, 400955BE
Known GenesLOC101929780, NBPF15, NBPF16
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)dgv99e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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