Variant DetailsVariant: esv3630756 Internal ID | 6670890 | Landmark | | Location Information | | Cytoband | 12q24.12 | Allele length | Assembly | Allele length | hg38 | 3710 | hg19 | 3710 |
| Variant Type | CNV loss | Copy Number | | Allele State | | Allele Origin | | Probe Count | | Validation Flag | | Merged Status | M | Merged Variants | | Supporting Variants | essv14604235, 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 | Samples | NA11832, 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 Genes | ATXN2 | Method | Sequencing | Analysis | | Platform | Multiple platforms | Comments | | Reference | 1000_Genomes_Consortium_Phase_3 | Pubmed ID | 21293372 | Accession Number(s) | esv3630756
| Frequency | Sample Size | 2504 | Observed Gain | 0 | Observed Loss | 181 | Observed Complex | 0 | Frequency | n/a |
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