A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9829984



Internal ID18677885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:120956725..120985906hg38UCSC Ensembl
InnerchrX:120090579..120119760hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg3829182
hg1929182
Variant TypeCNV gain
Copy Number2
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3577201
Supporting Variants
Samples401506LK
Known GenesCT47A1, CT47A10, CT47A11, CT47A12, CT47A2, CT47A3, CT47A4, CT47A5, CT47A6, CT47A8, CT47A9
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=18
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)essv9829984
Frequency
Sample Size873
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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