A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9830316



Internal ID18321688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:124452691..124455890hg38UCSC Ensembl
InnerchrX:123586541..123589740hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg383200
hg193200
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577244
Supporting Variants
Samples401251WN
Known GenesTENM1
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=32
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9830316
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