A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577170



Internal ID18705368
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:119495734..119502394hg38UCSC Ensembl
InnerchrX:118629697..118636357hg19UCSC Ensembl
CytobandXq24
Allele length
AssemblyAllele length
hg386661
hg196661
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9829715, essv9829716, essv9829714, essv9829719, essv9829712, essv9829718, essv9829713, essv9829720, essv9829717
Samples400701MM, 401457WK, 400325BE, 400425SL, 400733SW, 400533BB, 400171BJ, 401359HF, 401628GC
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
Comments
ReferenceUddin_et_al_2014
Pubmed ID25503493
Accession Number(s)esv3577170
Frequency
Sample Size873
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer