A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9824198



Internal ID18330197
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:22953327..23080815hg38UCSC Ensembl
InnerchrX:22971444..23098932hg19UCSC Ensembl
CytobandXp22.11
Allele length
AssemblyAllele length
hg38127489
hg19127489
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573648
Supporting Variants
Samples401490TL
Known GenesDDX53, LOC100873065
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
CommentsNumber of probes=108
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9824198
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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