A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582801



Internal ID18710999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:49269062..49277851hg38UCSC Ensembl
Innerchr17:47346424..47355213hg19UCSC Ensembl
Cytoband17q21.32
Allele length
AssemblyAllele length
hg388790
hg198790
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv948e212
Supporting Variantsessv9814680, essv9814698, essv9814674, essv9814673, essv9814686, essv9814685, essv9814693, essv9814684, essv9814681, essv9814670, essv9814687, essv9814694, essv9814679, essv9814676, essv9814696, essv9814697, essv9814677, essv9814691, essv9814692, essv9814675, essv9814665, essv9814695, essv9814668, essv9814672, essv9814699, essv9814666, essv9814690, essv9814671, essv9814682, essv9814683, essv9814688, essv9814669
Samples400739SS, 400917CG, 400594VJ, 400866RR, 401403TD, 401093VL, 401766MR, 400206SC, 402056KD, 401353BC, 400041LJ, 401725MR, 401251WN, 401526WB, 400082SD, 401504RJ, 401875FG, 400371GA, 400450FG, 40050SB, 401182OC, 401410BJ, 400430KV, 400728PB, 401016IT, 401847RK, 400069CN, 401894PD, 400859SC, 400323AA, 400213DB, 401932GN
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)esv3582801
Frequency
Sample Size873
Observed Gain0
Observed Loss32
Observed Complex0
Frequencyn/a


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