A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9825574



Internal ID18333302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:46169680..46644654hg38UCSC Ensembl
InnerchrX:46029115..46504089hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg38474975
hg19474975
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3576853
Supporting Variants
Samples401586RS
Known GenesCHST7, KRBOX4, SLC9A7, ZNF674, ZNF674-AS1
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=464
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9825574
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