A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630756



Internal ID6670890
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:111538487..111542196hg38UCSC Ensembl
Innerchr12:111538487..111542196hg38UCSC Ensembl
Outerchr12:111538186..111542479hg38UCSC Ensembl
chr12:111976291..111980000hg19UCSC Ensembl
Innerchr12:111976291..111980000hg19UCSC Ensembl
Outerchr12:111975990..111980283hg19UCSC Ensembl
Cytoband12q24.12
Allele length
AssemblyAllele length
hg383710
hg193710
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14604235, essv14604253, essv14604296, essv14604368, essv14604306, essv14604327, essv14604284, essv14604387, essv14604303, essv14604315, essv14604366, essv14604277, essv14604302, essv14604384, essv14604379, essv14604352, essv14604335, essv14604403, essv14604381, essv14604372, essv14604334, essv14604249, essv14604267, essv14604290, essv14604300, essv14604236, essv14604373, essv14604333, essv14604318, essv14604396, essv14604304, essv14604391, essv14604388, essv14604394, essv14604247, essv14604261, essv14604338, essv14604354, essv14604321, essv14604367, essv14604323, essv14604320, essv14604292, essv14604378, essv14604322, essv14604345, essv14604250, essv14604342, essv14604248, essv14604357, essv14604280, essv14604336, essv14604285, essv14604344, essv14604245, essv14604232, essv14604227, essv14604313, essv14604317, essv14604272, essv14604404, essv14604356, essv14604239, essv14604331, essv14604380, essv14604262, essv14604360, essv14604279, essv14604234, essv14604265, essv14604271, essv14604353, essv14604397, essv14604374, essv14604255, essv14604395, essv14604389, essv14604399, essv14604363, essv14604260, essv14604309, essv14604229, essv14604375, essv14604310, essv14604364, essv14604242, essv14604358, essv14604282, essv14604312, essv14604293, essv14604243, essv14604305, essv14604382, essv14604254, essv14604231, essv14604343, essv14604383, essv14604291, essv14604264, essv14604230, essv14604337, essv14604307, essv14604314, essv14604402, essv14604351, essv14604329, essv14604355, essv14604350, essv14604295, essv14604393, essv14604370, essv14604225, essv14604390, essv14604273, essv14604288, essv14604369, essv14604328, essv14604281, essv14604325, essv14604257, essv14604238, essv14604401, essv14604275, essv14604361, essv14604259, essv14604256, essv14604258, essv14604241, essv14604268, essv14604251, essv14604299, essv14604233, essv14604377, essv14604347, essv14604283, essv14604319, essv14604276, essv14604386, essv14604392, essv14604330, essv14604359, essv14604349, essv14604237, essv14604341, essv14604286, essv14604301, essv14604266, essv14604226, essv14604398, essv14604362, essv14604311, essv14604298, essv14604269, essv14604289, essv14604270, essv14604400, essv14604371, essv14604287, essv14604246, essv14604274, essv14604263, essv14604339, essv14604405, essv14604376, essv14604365, essv14604228, essv14604326, essv14604252, essv14604385, essv14604294, essv14604278, essv14604316, essv14604348, essv14604340, essv14604332, essv14604324, essv14604308, essv14604297, essv14604244, essv14604240, essv14604346
SamplesNA11832, NA20772, NA20509, HG01747, HG00096, HG01986, HG00114, NA20761, HG03593, HG02658, HG01441, NA12717, HG00143, HG00231, NA20508, NA12814, HG03821, HG02262, NA20512, HG01531, HG00364, NA19777, NA12058, HG04164, HG00177, HG00150, NA12400, HG03944, HG04001, NA12750, NA12399, HG03950, HG04156, HG03235, NA19792, HG01503, HG01350, HG03770, HG01177, NA19723, HG03765, NA20795, NA20769, NA12348, HG02266, HG02860, HG03874, HG02301, NA20540, NA12287, HG03629, HG00334, HG01668, HG00185, NA20910, NA12761, HG00281, HG03619, HG04183, HG01455, HG01069, NA19651, HG03910, HG00335, NA20819, HG02224, HG01519, NA20812, HG01757, HG01072, NA12889, HG00182, NA20811, NA21129, HG00338, HG00159, HG01133, HG01709, HG00365, HG02009, HG00313, HG00137, HG01183, HG01139, HG03844, NA20535, HG01248, HG01501, HG00282, NA19707, HG00145, HG03007, HG01384, HG00328, NA12342, HG02697, HG02236, HG03760, HG01790, HG01789, HG00732, NA20521, HG00101, NA20760, HG00368, HG03711, NA20862, HG00263, HG00275, HG01345, HG01077, HG01675, HG00239, NA19776, HG01102, HG00273, HG03871, HG03951, HG00350, NA20581, NA11893, HG01707, HG01241, NA20881, NA06989, HG03625, HG04189, HG01101, HG03969, HG00146, HG01708, HG01679, HG01680, NA19756, HG01286, NA12778, HG04176, HG00246, NA20534, HG01530, HG03653, NA20773, HG04219, HG02684, HG02282, HG00383, NA12716, HG04188, HG00254, HG00119, HG00366, HG02220, HG00375, NA20870, NA07051, NA20785, NA21123, HG01623, HG00116, NA20797, NA21094, NA12347, HG01395, HG03600, HG01606, HG00111, HG01491, NA21090, HG02230, NA20849, NA20852, HG01089, HG00186, NA20786, NA20807, HG01756, HG01775, HG04056, NA12890, NA20827, HG00554
Known GenesATXN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630756
Frequency
Sample Size2504
Observed Gain0
Observed Loss181
Observed Complex0
Frequencyn/a


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