A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574989



Internal ID18703187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:151530062..151553757hg38UCSC Ensembl
InnerchrX:150698534..150722229hg19UCSC Ensembl
CytobandXq28
Allele length
AssemblyAllele length
hg3823696
hg1923696
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2530e212
Supporting Variantsessv9833806, essv9833814, essv9833804, essv9833803, essv9833812, essv9833807, essv9833808, essv9833810, essv9833809, essv9833813, essv9833815, essv9833805
Samples401191MI, 401734PG, 400272AE, 400127MD, 400526DR, 401873BK, 401725MR, 401210PB, 401391PJ, 400677HD, 400021ME, 401207DA
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)esv3574989
Frequency
Sample Size873
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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