A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633665



Internal ID7020473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:19867394..19955157hg38UCSC Ensembl
chr14:20335553..20423316hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3887764
hg1987764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379e214
Supporting Variantsessv14919304, essv14919285, essv14919294, essv14919247, essv14919260, essv14919266, essv14919305, essv14919248, essv14919264, essv14919280, essv14919283, essv14919292, essv14919301, essv14919250, essv14919246, essv14919265, essv14919293, essv14919249, essv14919255, essv14919261, essv14919307, essv14919300, essv14919289, essv14919279, essv14919286, essv14919257, essv14919254, essv14919256, essv14919274, essv14919281, essv14919253, essv14919244, essv14919269, essv14919258, essv14919268, essv14919272, essv14919302, essv14919278, essv14919276, essv14919245, essv14919270, essv14919262, essv14919290, essv14919284, essv14919306, essv14919296, essv14919291, essv14919282, essv14919288, essv14919297, essv14919277, essv14919287, essv14919243, essv14919252, essv14919267, essv14919271, essv14919303, essv14919251, essv14919275, essv14919299, essv14919273, essv14919259, essv14919242, essv14919298, essv14919308, essv14919295, essv14919263, essv14919309
SamplesHG03960, HG00559, NA19332, HG02648, NA21100, NA19734, NA20532, HG03792, HG00341, HG00654, HG03680, HG00251, HG04038, HG02690, HG01488, HG00689, NA12348, NA18618, HG02645, HG01761, NA21108, NA20910, NA20819, HG02736, HG03691, NA19317, NA12889, HG00118, NA21129, HG02780, NA20755, HG01312, HG03714, HG02697, NA20810, HG02450, HG01845, HG03756, HG04180, HG03021, HG03967, HG01613, HG02141, HG04189, HG02725, HG01890, HG02586, NA21142, NA20534, HG04025, NA21117, HG02684, HG00119, HG03809, NA18564, HG00742, HG02790, HG00631, HG04099, HG02139, HG04003, HG03681, HG01804, HG03716, HG01600, HG01583, HG01437, HG01061
Known GenesOR4K1, OR4K2, OR4K5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633665
Frequency
Sample Size2504
Observed Gain68
Observed Loss0
Observed Complex0
Frequencyn/a


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