A curated catalogue of human genomic structural variation

Variant Details

Variant: dgv658e212

Internal ID20149114
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73539990..73557327hg38UCSC Ensembl
chr14:74006694..74024031hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3568154, esv3568209, esv3568320, esv3568331
Samples400132HN, 400649PS, 401033DJ, 400069CN, 400021ME, 400835FD, 400889CM
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
Pubmed ID25503493
Accession Number(s)dgv658e212
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0

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