A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9827591



Internal ID18675625
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:90953344..91007138hg38UCSC Ensembl
InnerchrX:90208343..90262137hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3853795
hg1953795
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576977
Supporting Variants
Samples401454CD
Known Genes
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=16
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9827591
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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