A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574176



Internal ID18702374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:90497141..90520202hg38UCSC Ensembl
InnerchrX:89752140..89775201hg19UCSC Ensembl
CytobandXq21.31
Allele length
AssemblyAllele length
hg3823062
hg1923062
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2335e212
Supporting Variantsessv9827520, essv9827529, essv9827519, essv9827535, essv9827530, essv9827523, essv9827534, essv9827531, essv9827527, essv9827525, essv9827518, essv9827524, essv9827522, essv9827526, essv9827528, essv9827517
Samples401052BM, 400294HD, 400523GB, 400675HC, 401113MJ, 401165SB, 401831TW, 401175FA, 400977SC, 400093BL, 401942MP, 400168HC, 400542EG, 400712GC, 400996MC, 400079AP
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)esv3574176
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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