A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv637e212



Internal ID22783564
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50936819..50947547hg38UCSC Ensembl
chr14:51403537..51414265hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3810729
hg1910729
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581195, esv3581196
Samples400911GA, 401196CR, 401819BS, 400572PJ, 400956AM, 401856GC, 401096SL, 400528LR, 401634CH, 400674CA, 400482MD, 400307HW, 401198TI, 401532LJ, 401406KF, 400282RA, 400416KA, 401084TD, 400955BE, 401834CB, 401619BT, 400387HE, 400047DS, 400249BC, 400362TV, 400598DA, 400274TL, 400601WC, 400845ML, 400235MP, 400971MK, 401265CB, 401240ML, 400778SR, 401735LE, 400150SS, 401969DR
Known GenesPYGL
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)dgv637e212
Frequency
Sample Size873
Observed Gain0
Observed Loss37
Observed Complex0
Frequencyn/a


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