A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3577237



Internal ID18705435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:124332075..124333087hg38UCSC Ensembl
InnerchrX:123465925..123466937hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381013
hg191013
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2421e212
Supporting Variantsessv9830251, essv9830256, essv9830260, essv9830259, essv9830258, essv9830267, essv9830271, essv9830264, essv9830270, essv9830263, essv9830265, essv9830269, essv9830253, essv9830261, essv9830249, essv9830262, essv9830250, essv9830254, essv9830257, essv9830268, essv9830252
Samples401261HD, 401592NR, 401899MB, 401856GC, 401733CG, 400643LD, 401975VD, 400650RM, 401596PJ, 401251WN, 402033WD, 400660GK, 400076LC, 400854SG, 401702GB, 401361GG, 400168HC, 401365DJ, 401438HT, 401510DG, 400021ME
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)esv3577237
Frequency
Sample Size873
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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