A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3576935



Internal ID18705133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:77104397..77148083hg38UCSC Ensembl
InnerchrX:76324810..76368537hg19UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg3843687
hg1943728
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2313e212
Supporting Variantsessv9826293, essv9826278, essv9826285, essv9826276, essv9826274, essv9826280, essv9826273
Samples400204SC, 401602PR, 400191MP, 400528LR, 400320RN, 401210PB, 400586RD
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)esv3576935
Frequency
Sample Size873
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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