A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579126



Internal ID18707324
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:112809420..112825813hg38UCSC Ensembl
Innerchr10:114569179..114585572hg19UCSC Ensembl
Cytoband10q25.2
Allele length
AssemblyAllele length
hg3816394
hg1916394
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv285e212
Supporting Variantsessv9794854, essv9794849, essv9794850, essv9794865, essv9794843, essv9794872, essv9794860, essv9794869, essv9794848, essv9794857, essv9794845, essv9794851, essv9794864, essv9794846, essv9794875, essv9794852, essv9794862, essv9794853, essv9794863, essv9794870, essv9794858, essv9794871, essv9794847, essv9794874, essv9794873, essv9794856, essv9794859, essv9794861, essv9794876, essv9794868, essv9794842
Samples401489CB, 400737GC, 400294HD, 401403TD, 401918CA, 401721CP, 400453LN, 400347VJ, 401634CH, 401808PS, 400482MD, 400348DK, 400374LB, 401393JW, 400502GS, 401977ES, 401979TB, 401085LA, 401333MM, 401859GS, 400705KK, 400943DV, 401334DH, 401057SS, 400072GR, 401861GG, 400996MC, 400661AD, 401490TL, 400269DA, 401362ME
Known GenesVTI1A
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)esv3579126
Frequency
Sample Size873
Observed Gain0
Observed Loss31
Observed Complex0
Frequencyn/a


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