A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1518e212



Internal ID22784445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:101764232..101780075hg38UCSC Ensembl
chr4:102685389..102701232hg19UCSC Ensembl
Cytoband4q24
Allele length
AssemblyAllele length
hg3815844
hg1915844
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3569634, esv3569633
Samples401033DJ, 401806DL, 400432VA, 401769CR, 400325BE, 400620MT, 402062KR, 401792KR, 400121PL, 401725MR, 400533BB, 400070PC, 401210PB, 401652HL, 400171BJ, 400006DK, 401086MD, 401039PA, 401616WP, 400677HD, 400769SL, 400255CD, 400091BS, 400704LC
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)dgv1518e212
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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