A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1676e212



Internal ID22784603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177800537..177838966hg38UCSC Ensembl
chr5:177227538..177265967hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3838430
hg1938430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3575933, esv3575906, esv3575909, esv3575934, esv3575932
Samples401911FL, 400574MA, 400221VM, 400606HW, 401214BJ, 400073HT, 400352CA, 401900RJ, 401125LM, 401717LP, 401119DK, 400375KA, 401968HL, 400829MR, 401346FJ, 401795SP, 400598DA, 400444MM, 400722OM, 401628GC, 401882CR, 401395OP, 400269DA
Known Genes
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)dgv1676e212
Frequency
Sample Size873
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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