A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3573032



Internal ID18701230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:143616751..143624796hg38UCSC Ensembl
Innerchr8:144698921..144706966hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg388046
hg198046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9790016, essv9790030, essv9790032, essv9790006, essv9790015, essv9790036, essv9790021, essv9790004, essv9790024, essv9790013, essv9790007, essv9790019, essv9790035, essv9790003, essv9790029, essv9790009, essv9790018, essv9790027, essv9790011, essv9790008, essv9790026, essv9790020, essv9790033, essv9790010, essv9790028, essv9790025, essv9790037, essv9790014, essv9790022, essv9790031, essv9790005, essv9790017
Samples400880TM, 401235IA, 401302LJ, 401183HP, 400553PP, 400509CJ, 401030GI, 400241CP, 400526DR, 400032RC, 401198TI, 401818PC, 400729HC, 401210PB, 400543CK, 400043HC, 401563TK, 400050RL, 400248JO, 400518MS, 400788PV, 400444MM, 401295HB, 402051AF, 401571SD, 400323AA, 400525MR, 401105WS, 401354KM, 400785AK, 400234CA, 400801HS
Known GenesTSTA3
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)esv3573032
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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