A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2055e212



Internal ID20150511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:18067129..18072237hg38UCSC Ensembl
chr8:17924638..17929746hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg385109
hg195109
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3572606, esv3572607
Samples401151RJ, 400671PP, 401661HD
Known GenesASAH1
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)dgv2055e212
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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