A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574503



Internal ID18702701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:123314170..123319739hg38UCSC Ensembl
InnerchrX:122448021..122453590hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg385570
hg195570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9830190, essv9830191
Samples400509CJ, 400558BL
Known GenesGRIA3
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)esv3574503
Frequency
Sample Size873
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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