A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv643e212



Internal ID20149099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66565352..66574434hg38UCSC Ensembl
chr14:67032070..67041152hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg389083
hg199083
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581235, esv3581236, esv3581237
Samples400911GA, 401459HF, 401432SB, 401820SD, 400156WT
Known GenesGPHN
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)dgv643e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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