A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1619e212



Internal ID22784546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78813353..78821695hg38UCSC Ensembl
chr5:78109176..78117518hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg388343
hg198343
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3570217, esv3570225, esv3570221, esv3570222, esv3570223
Samples400359OR, 400649PS, 401420PJ, 401366WD, 400634MP, 400468OB, 401117NA, 400995MS, 401457WK, 400629BM, 400077EB, 400425SL, 400658BW, 400893ZE, 401975VD, 400827MM, 401924ST, 401297KC, 400600DP, 400134WK, 400688FL, 401401BA, 400817MB, 400427SD, 400060MC, 400352CA, 401331LJ, 401085LA, 400738WM, 400977SC, 401717LP, 400093BL, 400375KA, 401333MM, 400681MC, 401017SC, 400854SG, 400524NJ, 400371GA, 401700BN, 401914PR, 401496SL, 400053LE, 401315HK, 401881TJ, 402060PD, 401250WD, 400835FD, 400013TA, 400833BB
Known GenesARSB
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)dgv1619e212
Frequency
Sample Size873
Observed Gain0
Observed Loss50
Observed Complex0
Frequencyn/a


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