A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574608



Internal ID18702806
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:134523485..134526511hg38UCSC Ensembl
InnerchrX:133657515..133660541hg19UCSC Ensembl
CytobandXq26.3
Allele length
AssemblyAllele length
hg383027
hg193027
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2431e212
Supporting Variantsessv9830650, essv9830656, essv9830661, essv9830647, essv9830653, essv9830654, essv9830649, essv9830646, essv9830659, essv9830658, essv9830648, essv9830660, essv9830652, essv9830657, essv9830651
Samples400534ME, 400094RS, 400553PP, 400241CP, 400043HC, 401618HR, 400123WN, 401943KA, 401922MW, 400177CG, 400201PK, 400501SJ, 401354KM, 400315DA, 401554VN
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)esv3574608
Frequency
Sample Size873
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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