A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9824516



Internal ID18309389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:28634944..28638697hg38UCSC Ensembl
InnerchrX:28653061..28656814hg19UCSC Ensembl
CytobandXp21.3
Allele length
AssemblyAllele length
hg383754
hg193754
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3573700
Supporting Variants
Samples400869BK
Known GenesIL1RAPL1
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=16
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9824516
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