A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv676e212



Internal ID22783603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:97263142..97278711hg38UCSC Ensembl
chr14:97729479..97745048hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg3815570
hg1915570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581400, esv3581401
Samples401894PD, 402073LQ
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)dgv676e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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