A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582065



Internal ID18363577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:17386140..17387916hg38UCSC Ensembl
Innerchr16:17479997..17481773hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg381777
hg191777
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9810214, essv9810167, essv9810257, essv9810173, essv9810145, essv9810219, essv9810189, essv9810208, essv9810220, essv9810248, essv9810183, essv9810226, essv9810184, essv9810130, essv9810182, essv9810237, essv9810165, essv9810235, essv9810193, essv9810202, essv9810195, essv9810197, essv9810251, essv9810192, essv9810190, essv9810176, essv9810223, essv9810146, essv9810157, essv9810246, essv9810156, essv9810138, essv9810149, essv9810128, essv9810179, essv9810161, essv9810224, essv9810136, essv9810230, essv9810147, essv9810164, essv9810158, essv9810141, essv9810234, essv9810152, essv9810171, essv9810242, essv9810221, essv9810132, essv9810160, essv9810150, essv9810203, essv9810216, essv9810129, essv9810231, essv9810186, essv9810210, essv9810229, essv9810168, essv9810154, essv9810254, essv9810198, essv9810153, essv9810238, essv9810143, essv9810245, essv9810185, essv9810249, essv9810253, essv9810135, essv9810206, essv9810209, essv9810137, essv9810239, essv9810215, essv9810207, essv9810131, essv9810232, essv9810134, essv9810175, essv9810217, essv9810170, essv9810201, essv9810241, essv9810218, essv9810204, essv9810194, essv9810205, essv9810181, essv9810250, essv9810180, essv9810196, essv9810169, essv9810191, essv9810236, essv9810172, essv9810187, essv9810151, essv9810162, essv9810139, essv9810227, essv9810247, essv9810212, essv9810148, essv9810159, essv9810243, essv9810178, essv9810256, essv9810252, essv9810240, essv9810140, essv9810163, essv9810213, essv9810174, essv9810142, essv9810225, essv9810228
Samples401266HM, 401936BA, 400782IE, 400797ST, 401619BT, 401979TB, 400107MJ, 401532LJ, 401105WS, 401175FA, 400076LC, 401489CB, 401104DM, 401972BA, 401514BA, 401721CP, 400956AM, 401030GI, 401200BD, 402024BB, 400277LM, 400983PV, 401027KW, 401943KA, 401869BG, 400653GP, 400494ML, 401490TL, 400730SH, 400792RE, 401771OS, 400930MK, 401311GL, 402016HZ, 400113LD, 401346FJ, 401457WK, 400460DM, 401975VD, 400155CW, 401864CV, 401334DH, 400661AD, 400352CA, 401239PR, 401824MM, 401993HM, 400502GS, 401110GJ, 401203MP, 400377WJ, 401506LK, 400070PC, 401420PJ, 401427CB, 401475MK, 400077EB, 401250WD, 401554VN, 401366WD, 401732HW, 400033KC, 400899NK, 401655DC, 400103BN, 400032RC, 401825TH, 400385LJ, 400450FG, 400876OG, 400577MK, 401820SD, 400341GL, 401084BD, 400528LR, 400763BT, 401496SL, 401834CB, 401390DG, 401191MI, 400838AM, 400344DR, 401498HH, 401102RD, 400177SJ, 400285FA, 401288LD, 401778CB, 400124FR, 400639RP, 400084DM, 401362ME, 400438DB, 400855BD, 400817MB, 401185LE, 401284NA, 401608GE, 401808PS, 400041LJ, 401198TI, 400292LP, 401997HB, 401119DK, 400272AE, 401261HD, 401693RC, 400122PL, 401364NA, 401914PR, 400886MP, 400265LK, 400156WT, 401620BA, 401513KC, 401832MC, 400340CD
Known GenesXYLT1
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)esv3582065
Frequency
Sample Size873
Observed Gain0
Observed Loss117
Observed Complex0
Frequencyn/a


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