A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv653e212



Internal ID20149109
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73529057..73557327hg38UCSC Ensembl
chr14:73995761..74024031hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3828271
hg1928271
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568298, esv3568287, esv3568187, esv3568220, esv3568109
Samples400300SD, 401230NL, 400454RE, 400171BJ, 400213DB, 400583HS, 401250WD, 400728PB, 400320RN, 400763BT, 401235IA, 400243CK, 400348DK, 400509CJ
Known GenesACOT1, HEATR4
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)dgv653e212
Frequency
Sample Size873
Observed Gain14
Observed Loss0
Observed Complex0
Frequencyn/a


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