A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9827715



Internal ID18317755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:94479550..95167650hg38UCSC Ensembl
InnerchrX:93734549..94422649hg19UCSC Ensembl
CytobandXq21.33
Allele length
AssemblyAllele length
hg38688101
hg19688101
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3574235
Supporting Variants
Samples401117NA
Known Genes
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=340
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9827715
Frequency
Sample Size873
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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