A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573848



Internal ID18702046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:34024137..34055308hg38UCSC Ensembl
InnerchrX:34042254..34073425hg19UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg3831172
hg1931172
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9825354, essv9825357, essv9825361, essv9825352, essv9825356, essv9825353, essv9825360, essv9825358, essv9825359
Samples400599CP, 400701MM, 400953MR, 400503HD, 401432SB, 401357MH, 400524NJ, 400013TA, 400261RN
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)esv3573848
Frequency
Sample Size873
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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