A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv645e212



Internal ID20149101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66702039..66708714hg38UCSC Ensembl
chr14:67168757..67175432hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386676
hg196676
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3581245, esv3581241, esv3581242, esv3581244, esv3581246
Samples400837HN, 401077VC, 401725MR, 401474CE, 401143LK, 400577MK, 400785AK, 400361HC, 400328LM, 401198TI, 400272AE
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)dgv645e212
Frequency
Sample Size873
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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