A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573561



Internal ID18701759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:9703038..9708291hg38UCSC Ensembl
InnerchrX:9671078..9676331hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385254
hg195254
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2217e212
Supporting Variantsessv9823504, essv9823506, essv9823505, essv9823508, essv9823507
Samples400582WS, 400093BL, 401864CV, 400888MS, 400069CN
Known GenesTBL1X
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3573561
Frequency
Sample Size873
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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