A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9826245



Internal ID18689463
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77096817..77158181hg38UCSC Ensembl
InnerchrX:76317234..76378644hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3861365
hg1961411
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576937
Supporting Variants
Samples401863BD
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=27
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9826245
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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