A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576769



Internal ID18704967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:11128246..11129424hg38UCSC Ensembl
InnerchrX:11146366..11147544hg19UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg381179
hg191179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2218e212
Supporting Variantsessv9823524, essv9823525, essv9823526
Samples400320RN, 401838EN, 401732HW
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)esv3576769
Frequency
Sample Size873
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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