A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3568347



Internal ID18349859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27995410..28002579hg38UCSC Ensembl
Innerchr22:28391398..28398567hg19UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg387170
hg197170
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9821991, essv9821992, essv9821993, essv9821994
Samples401146US, 400265LK, 401696CG, 401254AE
Known GenesTTC28, TTC28-AS1
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)esv3568347
Frequency
Sample Size873
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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