A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9826096



Internal ID18626160
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:66550648..66717352hg38UCSC Ensembl
InnerchrX:65770490..65937194hg19UCSC Ensembl
CytobandXq12
Allele length
AssemblyAllele length
hg38166705
hg19166705
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576921
Supporting Variants
Samples400041LJ
Known GenesEDA2R
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=96
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9826096
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer