A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1831e212



Internal ID22784758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:133939645..133956818hg38UCSC Ensembl
chr6:134260783..134277956hg19UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3817174
hg1917174
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3571404, esv3571403, esv3571402
Samples401196CR, 400518MS, 401372RR, 400833BB, 400269DA
Known GenesTBPL1
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)dgv1831e212
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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