A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573461



Internal ID18701659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:5421305..5432983hg38UCSC Ensembl
InnerchrX:5339346..5351024hg19UCSC Ensembl
CytobandXp22.32
Allele length
AssemblyAllele length
hg3811679
hg1911679
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9822912, essv9822905, essv9822916, essv9822909, essv9822898, essv9822910, essv9822915, essv9822914, essv9822899, essv9822903, essv9822901, essv9822913, essv9822902, essv9822906, essv9822907, essv9822904, essv9822908
Samples401275SJ, 400094RS, 400866RR, 401302LJ, 400669LD, 401133JG, 402056KD, 402029KJ, 401406KF, 401423BA, 400724CD, 401504RJ, 402054BD, 401391PJ, 400246MG, 400661AD, 401497PR
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)esv3573461
Frequency
Sample Size873
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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