A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576959



Internal ID18358471
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:86035724..86042081hg38UCSC Ensembl
InnerchrX:85290728..85297085hg19UCSC Ensembl
CytobandXq21.2
Allele length
AssemblyAllele length
hg386358
hg196358
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2327e212
Supporting Variantsessv9827271, essv9827272, essv9827274, essv9827273, essv9827275
Samples400701MM, 401005BL, 401591BE, 401717LP, 400014SL
Known GenesCHM
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)esv3576959
Frequency
Sample Size873
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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