A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv168e212



Internal ID20148624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:248589883..248664922hg38UCSC Ensembl
chr1:248753184..248828223hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3875040
hg1975040
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3578559, esv3578550
Samples400427SD, 401491BB, 400371GA, 400927BD, 400354TJ, 401719RL, 401711WS, 400158FB
Known GenesOR2T10, OR2T11, OR2T27, OR2T35
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)dgv168e212
Frequency
Sample Size873
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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