A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571639



Internal ID18699837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:11579811..11584100hg38UCSC Ensembl
Innerchr7:11619438..11623727hg19UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg384290
hg194290
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9783063, essv9783071, essv9783078, essv9783067, essv9783064, essv9783062, essv9783070, essv9783080, essv9783073, essv9783083, essv9783069, essv9783068, essv9783076, essv9783082, essv9783084, essv9783086, essv9783079, essv9783081, essv9783075, essv9783065, essv9783061, essv9783085, essv9783074, essv9783072
Samples401636WR, 400908PJ, 401196CR, 401261HD, 400970VE, 401330RR, 401924ST, 401842BJ, 401364NA, 400356MC, 400338SR, 401997HB, 401646MC, 400974PS, 400040CN, 400070PC, 401494PD, 401859GS, 401563TK, 401771OS, 400705KK, 400846MC, 400329HJ, 400243CK
Known GenesTHSD7A
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)esv3571639
Frequency
Sample Size873
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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