A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3575350



Internal ID18703548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:1580128..1617351hg38UCSC Ensembl
Innerchr20:1560774..1597997hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg3837224
hg1937224
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1225e212
Supporting Variantsessv9818913, essv9818964, essv9819005, essv9818891, essv9818708, essv9818763, essv9819004, essv9818709, essv9818952, essv9819056, essv9818990, essv9818870, essv9818782, essv9818789, essv9818860, essv9819017, essv9818729, essv9818825, essv9818943, essv9819035, essv9818712, essv9818934, essv9819070, essv9818791, essv9818783, essv9819081, essv9818927, essv9818829, essv9819037, essv9818711, essv9818923, essv9818757, essv9818984, essv9818718, essv9818815, essv9818925, essv9819039, essv9818715, essv9818756, essv9818986, essv9819076, essv9818809, essv9818929, essv9818887, essv9818768, essv9818910, essv9818918, essv9818876, essv9819067, essv9818747, essv9818816, essv9818722
Samples401102RD, 401799DP, 401420PJ, 401221LD, 400534ME, 401146US, 401285HN, 401074CM, 401427CB, 401698SB, 400493KH, 400620MT, 400245SJ, 400523GB, 400827MM, 401808PS, 400600DP, 400073HT, 401184MM, 401566DD, 400307HW, 400427SD, 401965TG, 400032RC, 400374LB, 401994BD, 401133JG, 400109LJ, 400060MC, 401175FA, 400007RG, 400040CN, 400207HN, 401950MD, 401119DK, 401804FG, 401454CD, 401084BD, 400014SL, 400422PN, 401580CA, 400378HL, 400274TL, 400795CL, 401881TJ, 400863SS, 402048WB, 400930MK, 400013TA, 401341TS, 400255CD, 400923OA
Known GenesSIRPB1
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)esv3575350
Frequency
Sample Size873
Observed Gain52
Observed Loss0
Observed Complex0
Frequencyn/a


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