A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3582075



Internal ID18710273
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:19934473..19954540hg38UCSC Ensembl
Innerchr16:19945795..19965862hg19UCSC Ensembl
Cytoband16p12.3
Allele length
AssemblyAllele length
hg3820068
hg1920068
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv803e212
Supporting Variantsessv9810319, essv9810329, essv9810306, essv9810314, essv9810352, essv9810331, essv9810294, essv9810280, essv9810278, essv9810293, essv9810320, essv9810301, essv9810325, essv9810309, essv9810281, essv9810291, essv9810337, essv9810343, essv9810316, essv9810284, essv9810354, essv9810335, essv9810353, essv9810275, essv9810304, essv9810330, essv9810285, essv9810332, essv9810302, essv9810315, essv9810305, essv9810342, essv9810348, essv9810318, essv9810276, essv9810286, essv9810328, essv9810321, essv9810347, essv9810295, essv9810324, essv9810274, essv9810327, essv9810349, essv9810346, essv9810345, essv9810312, essv9810340, essv9810313, essv9810317, essv9810271, essv9810273, essv9810308, essv9810297, essv9810292, essv9810298, essv9810351, essv9810300, essv9810307, essv9810341, essv9810334, essv9810279, essv9810296, essv9810323, essv9810290, essv9810336, essv9810272, essv9810338, essv9810339, essv9810282, essv9810326, essv9810350, essv9810283, essv9810303, essv9810289, essv9810287
Samples400920MK, 401806DL, 400308SP, 401110GJ, 400336BG, 400101EH, 400683EC, 401117NA, 400866RR, 401302LJ, 401442WR, 401845MJ, 400625FT, 400325BE, 401824MM, 401468RL, 400059SV, 400934LA, 400643LD, 400493KH, 401582GG, 401308LD, 401936BA, 401551MB, 400528LR, 401281BP, 401297KC, 401860TJ, 400482MD, 401687LR, 400588BE, 400337HG, 401214BJ, 400564SN, 401773AM, 400579HJ, 401801LA, 401791FG, 400974PS, 400533BB, 400040CN, 401623SN, 401825TH, 401879HJ, 401630MK, 401506LK, 401619BT, 401311GL, 401892MJ, 400603CJ, 400362TV, 401778CB, 401884WJ, 401696CG, 401700BN, 401514BA, 401182OC, 400943DV, 400624RJ, 401428LD, 400158FB, 400295PS, 400501SJ, 4000046CJ, 401152MV, 402008MC, 400106PC, 401912HD, 401154BR, 402023EC, 401177SL, 400291VJ, 400150SS, 400021ME, 400255CD, 400668TD
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)esv3582075
Frequency
Sample Size873
Observed Gain0
Observed Loss76
Observed Complex0
Frequencyn/a


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