A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573976



Internal ID18702174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:53461801..53470031hg38UCSC Ensembl
InnerchrX:53488747..53496978hg19UCSC Ensembl
CytobandXp11.22
Allele length
AssemblyAllele length
hg388231
hg198232
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825820, essv9825823, essv9825821
Samples401261HD, 400718PS, 401977ES
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)esv3573976
Frequency
Sample Size873
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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