A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9829684



Internal ID18349236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:118763465..118773871hg38UCSC Ensembl
InnerchrX:117897428..117907834hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3810407
hg1910407
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574403
Supporting Variants
Samples402073LQ
Known GenesIL13RA1
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=8
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9829684
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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