A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3574524



Internal ID18702722
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:124575474..124576477hg38UCSC Ensembl
InnerchrX:123709324..123710327hg19UCSC Ensembl
CytobandXq25
Allele length
AssemblyAllele length
hg381004
hg191004
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2422e212
Supporting Variantsessv9830335, essv9830341, essv9830340, essv9830336, essv9830351, essv9830329, essv9830325, essv9830328, essv9830327, essv9830352, essv9830346, essv9830339, essv9830338, essv9830334, essv9830345, essv9830324, essv9830342, essv9830330, essv9830347, essv9830323, essv9830343, essv9830349, essv9830326, essv9830348, essv9830350, essv9830331, essv9830337, essv9830332
Samples400075MR, 401385BB, 400737GC, 400083TG, 400625FT, 400897MD, 400191MP, 401975VD, 401687LR, 401566DD, 401038LN, 400836LK, 401746WW, 401655DC, 401027KW, 400870KC, 400040CN, 401477ST, 401942MP, 401087SF, 400639RP, 401493HC, 400248JO, 400246MG, 400996MC, 401354KM, 401453OL, 401254AE
Known GenesTENM1
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)esv3574524
Frequency
Sample Size873
Observed Gain0
Observed Loss28
Observed Complex0
Frequencyn/a


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