A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2115e212



Internal ID22785042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:132190663..132196377hg38UCSC Ensembl
chr8:133202910..133208624hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg385715
hg195715
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572994, esv3572995
Samples402016HZ, 400323AA
Known GenesKCNQ3
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)dgv2115e212
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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