A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3570993



Internal ID18352505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32807185..32815986hg38UCSC Ensembl
Innerchr6:32774962..32783763hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg388802
hg198802
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1759e212
Supporting Variantsessv9778997, essv9779054, essv9779009, essv9779008, essv9779022, essv9778998, essv9779055, essv9779028, essv9779047, essv9779042, essv9779038, essv9779037, essv9779013, essv9779050, essv9779019, essv9779027, essv9779065, essv9779004, essv9779018, essv9779043, essv9779025, essv9779033, essv9779021, essv9779011, essv9779005, essv9779024, essv9779052, essv9779016, essv9779049, essv9779060, essv9779063, essv9779032, essv9779041, essv9779039, essv9779058, essv9779007, essv9779057, essv9779030, essv9779006, essv9779062, essv9779046, essv9779000, essv9779064, essv9779048, essv9778999, essv9779069, essv9779070, essv9779068, essv9779017, essv9779036, essv9779026, essv9779053, essv9779003, essv9779061, essv9779066, essv9779010, essv9779002, essv9779015, essv9779029, essv9779072, essv9779051, essv9779071, essv9779059, essv9779040, essv9779035, essv9779044, essv9779014, essv9779020, essv9779031
Samples400247CL, 401749DJ, 400927BD, 400984LD, 400987FB, 400739SS, 400683EC, 400429YF, 401415CB, 401742KB, 400956AM, 401841OB, 401927SK, 400595CP, 400325BE, 400077EB, 401820SD, 400199SA, 401857VG, 400937OR, 400379BB, 402016HZ, 401634CH, 401173AI, 401792KR, 401297KC, 402038MR, 400022WA, 401038LN, 401133JG, 400653GP, 401773AM, 400729HC, 400843FL, 401726LW, 400663MD, 400615RI, 400007RG, 401274PA, 401863BD, 401278DM, 400375KA, 400758KP, 401930GD, 401889FR, 401493HC, 400524NJ, 400278PD, 401039PA, 400520FM, 401700BN, 400444MM, 400654YW, 400671PP, 400770MA, 400158FB, 400156WT, 400069CN, 400267GD, 400769SL, 400312CR, 400271SR, 401681MS, 400315DA, 400084DM, 400213DB, 401480PG, 400532MH, 400645KM
Known GenesHLA-DOB
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)esv3570993
Frequency
Sample Size873
Observed Gain0
Observed Loss69
Observed Complex0
Frequencyn/a


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