A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9823702



Internal ID18293211
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:15249260..15272357hg38UCSC Ensembl
InnerchrX:15267382..15290479hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg3823098
hg1923098
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573600
Supporting Variants
Samples400379BB
Known GenesASB9
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=10
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9823702
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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