A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3571234



Internal ID18699432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:78135248..78153712hg38UCSC Ensembl
Innerchr6:78844965..78863429hg19UCSC Ensembl
Cytoband6q14.1
Allele length
AssemblyAllele length
hg3818465
hg1918465
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1808e212
Supporting Variantsessv9780692, essv9780687, essv9780672, essv9780666, essv9780705, essv9780684, essv9780683, essv9780688, essv9780696, essv9780704, essv9780685, essv9780674, essv9780698, essv9780676, essv9780691, essv9780699, essv9780668, essv9780695, essv9780686, essv9780680, essv9780665, essv9780664, essv9780671, essv9780682, essv9780669, essv9780679, essv9780670, essv9780703, essv9780694, essv9780690, essv9780701, essv9780662, essv9780693, essv9780697, essv9780663, essv9780702, essv9780681, essv9780673, essv9780675, essv9780677
Samples401852SK, 400739SS, 400455SJ, 401117NA, 401856GC, 400199SA, 400641WJ, 400059SV, 400558BL, 400347VJ, 401990PR, 401258PC, 401297KC, 401687LR, 400337HG, 401401BA, 401994BD, 401997HB, 400060MC, 401655DC, 400070PC, 400783MJ, 400768MN, 401230NL, 400381CA, 400994HJ, 400978JG, 401874DJ, 400329HJ, 400274TL, 401914PR, 401288LD, 400863SS, 401135CS, 400106PC, 400084DM, 400266BA, 400021ME, 401207DA, 400269DA
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)esv3571234
Frequency
Sample Size873
Observed Gain0
Observed Loss40
Observed Complex0
Frequencyn/a


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