A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3583995



Internal ID18712193
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:105523856..105535720hg38UCSC Ensembl
Innerchr2:106140313..106152177hg19UCSC Ensembl
Cytoband2q12.2
Allele length
AssemblyAllele length
hg3811865
hg1911865
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1158e212
Supporting Variantsessv9834805, essv9834812, essv9834802, essv9834811, essv9834817, essv9834809, essv9834807, essv9834815, essv9834801, essv9834808, essv9834806, essv9834816, essv9834814, essv9834813, essv9834804, essv9834803
Samples401117NA, 401249TP, 401096SL, 401603HH, 400627CC, 401133JG, 400383HL, 400093BL, 4000657TM, 401346FJ, 401075MN, 400378HL, 400053LE, 401571SD, 400859SC, 401177SL
Known Genes
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)esv3583995
Frequency
Sample Size873
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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