A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3581196



Internal ID18709394
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:50936867..50947547hg38UCSC Ensembl
Innerchr14:51403585..51414265hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3810681
hg1910681
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv637e212
Supporting Variantsessv9805569, essv9805566, essv9805550, essv9805573, essv9805581, essv9805577, essv9805557, essv9805554, essv9805553, essv9805582, essv9805579, essv9805574, essv9805561, essv9805559, essv9805575, essv9805572, essv9805584, essv9805580, essv9805560, essv9805562, essv9805570, essv9805585, essv9805558, essv9805551, essv9805568, essv9805571, essv9805576, essv9805564, essv9805555, essv9805552, essv9805565, essv9805563, essv9805583
Samples400911GA, 401819BS, 400572PJ, 400956AM, 401856GC, 401096SL, 400528LR, 401634CH, 400674CA, 400482MD, 400307HW, 401198TI, 401532LJ, 401406KF, 400282RA, 400416KA, 401084TD, 400955BE, 401619BT, 400387HE, 400047DS, 400249BC, 400362TV, 400598DA, 400274TL, 400601WC, 400235MP, 400971MK, 401265CB, 401240ML, 400778SR, 400150SS, 401969DR
Known GenesPYGL
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)esv3581196
Frequency
Sample Size873
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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