A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1169e212



Internal ID22784096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:130046530..130121084hg38UCSC Ensembl
chr2:130804103..130878657hg19UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3874555
hg1974555
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3584062, esv3584064, esv3584059, esv3584067, esv3584068, esv3584063, esv3584066
Samples401292ER, 400268SY, 400094RS, 400852WJ, 401064FR, 400688FL, 402061PI, 400352CA, 400955BE, 401652HL, 400829MR, 401563TK, 401182OC, 400837HN, 400084DM, 400704LC
Known GenesFAR2P1, POTEF
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)dgv1169e212
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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