A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv578e212



Internal ID22783505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:101240687..101244892hg38UCSC Ensembl
chr13:101893038..101897243hg19UCSC Ensembl
Cytoband13q33.1
Allele length
AssemblyAllele length
hg384206
hg194206
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3580862, esv3580863
Samples401749DJ, 401385BB, 401235IA, 401460LW, 400429YF, 400230TB, 401151RJ, 400641WJ, 400340CD, 400937OR, 400131CM, 401173AI, 400227MM, 400051MR, 400343BD, 401780BB, 400148MS, 400356MC, 401739BJ, 400793BR, 400383HL, 400974PS, 401913GT, 400285FA, 401278DM, 401326LI, 402054BD, 401086MD, 400168HC, 401016IT, 400811SK, 401284NA, 401969DR, 401254AE, 401246HH
Known GenesNALCN
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)dgv578e212
Frequency
Sample Size873
Observed Gain0
Observed Loss35
Observed Complex0
Frequencyn/a


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