A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3579279



Internal ID18707477
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:5762680..5788000hg38UCSC Ensembl
Innerchr11:5783910..5809230hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3825321
hg1925321
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv312e212
Supporting Variantsessv9795641, essv9795665, essv9795663, essv9795650, essv9795630, essv9795636, essv9795642, essv9795657, essv9795646, essv9795637, essv9795643, essv9795635, essv9795659, essv9795660, essv9795632, essv9795653, essv9795631, essv9795640, essv9795654, essv9795651, essv9795628, essv9795639, essv9795666, essv9795655, essv9795634, essv9795627, essv9795647, essv9795661, essv9795658, essv9795648, essv9795649, essv9795664, essv9795662, essv9795629
Samples401110GJ, 401400NP, 400455SJ, 400876OG, 400429YF, 400230TB, 401742KB, 401330RR, 401674DD, 400453LN, 401019MP, 400155CW, 401975VD, 400669LD, 402028BD, 401869BG, 400503HD, 401495NR, 400413FJ, 402033WD, 401357MH, 400082SD, 401879HJ, 401771OS, 401943KA, 401444LD, 402074RR, 401182OC, 402009WP, 401288LD, 401912HD, 401453OL, 400704LC, 401180GR
Known GenesOR52N1, OR52N5
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)esv3579279
Frequency
Sample Size873
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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