A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573952



Internal ID18702150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:49308272..49314268hg38UCSC Ensembl
InnerchrX:49164751..49170747hg19UCSC Ensembl
CytobandXp11.23
Allele length
AssemblyAllele length
hg385997
hg195997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825660, essv9825659, essv9825661, essv9825662, essv9825657, essv9825658
Samples401151RJ, 401721CP, 400127MD, 401691HA, 401057SS, 400996MC
Known GenesGAGE10
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)esv3573952
Frequency
Sample Size873
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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