A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv618e212



Internal ID22783545
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23981893..24025021hg38UCSC Ensembl
chr14:24451102..24494230hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843129
hg1943129
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581081, esv3581080, esv3581084, esv3581083, esv3581075
Samples401162TM, 401235IA, 401845MJ, 400743LS, 402064DC, 402012RR, 401029SD, 401853WR, 401326LI, 401112LG, 401314MK, 400996MC
Known GenesDHRS4L1, DHRS4L2
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)dgv618e212
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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