Variant DetailsVariant: esv2421501 | Internal ID | 8251949 | | Landmark | | | Location Information | | | Cytoband | 4q13.2 | | Allele length | | Assembly | Allele length | | hg38 | 128741 | | hg19 | 128741 | | hg18 | 128741 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5062729, essv5097672, essv5112511, essv5118720, essv5008017, essv5037166, essv5015547, essv5107698, essv5089728, essv5073848, essv5124713, essv5118605, essv5146593, essv5137814, essv5104874, essv5100677, essv5026426, essv5160485, essv5104374, essv5096049, essv5071900, essv5032815, essv5156881, essv5055244, essv5013685, essv5160384, essv5004738, essv5074116, essv5145903, essv5070543, essv5068282, essv5054570, essv5139055, essv5140630, essv5113327, essv5091298, essv5144816, essv5099034, essv5045127, essv5097976, essv5099493, essv5010369, essv5140978, essv5095331, essv5042553, essv5122293, essv5111338, essv5056732, essv5157789, essv5051955, essv5130567, essv5064552, essv5113849, essv5041358, essv5137039, essv5102511, essv5108063, essv5108737, essv5049974, essv5042528, essv5027632, essv5034021, essv5050471, essv5039977, essv5035279, essv5118322, essv5065487, essv5160950, essv5010478, essv5153675, essv5085352, essv5130407, essv5062924, essv5055387, essv5010774, essv5147275, essv5146643, essv5028637, essv5140300, essv5042349, essv5092270, essv5148056, essv5128362, essv5016448, essv5157004, essv5088715, essv5109072, essv5024911, essv5072116, essv5068935, essv5033994, essv5088039, essv5120229, essv5078660, essv5011661, essv5016301, essv5047949, essv5152758, essv5089502, essv5076946, essv5066939, essv5137703, essv5111632, essv5093271, essv5007906, essv5036264, essv5135497, essv5155211, essv5067235, essv5148612, essv5107021, essv5019032, essv5057181, essv5020196, essv5134687, essv5078988, essv5073599, essv5033001, essv5051847, essv5136990, essv5123628, essv5010076, essv5004638, essv5142726, essv5022530, essv5103423, essv5145840, essv5110974, essv5056519, essv5082180, essv5028666, essv5151705, essv5161064, essv5071755, essv5013902, essv5006029, essv5152668, essv5047777, essv5122808, essv5093406, essv5034759, essv5009712, essv5005007, essv5056162, essv5105448, essv5029969, essv5155384, essv5051144, essv5002574, essv5062650, essv5035277, essv5136410, essv5123819, essv5117302, essv5087335, essv5070024, essv5154387, essv5104228, essv5032879, essv5139385, essv5145434, essv5136745, essv5065480, essv5057881, essv5040753, essv5158771, essv5111102, essv5047463, essv5131065, essv5130227, essv5008585, essv5112255, essv5114515, essv5053573, essv5067624, essv5051251, essv5032669, essv5013166, essv5081792, essv5053529, essv5009880, essv5140145, essv5017015, essv5075787, essv5056188, essv5113189, essv5099549, essv5078257, essv5124965, essv5097304, essv5008614, essv5129625, essv5012755, essv5093340, essv5002934, essv5069506, essv5147809, essv5106761, essv5101691, essv5018395, essv5119917, essv5101752, essv5132560, essv5077344, essv5014835, essv5093875, essv5152760, essv5090511, essv5030851, essv5052604, essv5133158, essv5091696, essv5008739, essv5110616, essv5153404, essv5092544, essv5047604, essv5051279, essv5046144, essv5116618, essv5129469, essv5126301, essv5070163, essv5110189, essv5110859, essv5044994, essv5039077, essv5024302, essv5123311, essv5104844, essv5052112, essv5096445, essv5130427, essv5104264, essv5060683, essv5042014, essv5002597, essv5137042, essv5124771, essv5041442, essv5153487, essv5044612, essv5044571, essv5023695, essv5125973, essv5024161, essv5018334, essv5066915, essv5066366, essv5094651, essv5033208, essv5018264, essv5005160, essv5031793, essv5024379, essv5158956, essv5058042, essv5104498, essv5065673, essv5119508, essv5132343, essv5074086, essv5016329, essv5149441, essv5158055, essv5144431, essv5139981, essv5129982, essv5126618, essv5143941, essv5106375, essv5031750, essv5010108, essv5082228, essv5023787, essv5006957, essv5098820, essv5029977, essv5132677, essv5053595, essv5037031, essv5122836, essv5019602, essv5029068, essv5014688, essv5147476, essv5020864, essv5057385, essv5012748, essv5024092, essv5025096, essv5044109, essv5060825, essv5075521, essv5099857, essv5127359, essv5131772, essv5053789, essv5077200, essv5025013, essv5024083, essv5066655, essv5155373, essv5034761, essv5048630, essv5119676, essv5114015, essv5132077, essv5094232, essv5073659, essv5154986, essv5071556, essv5136776, essv5025917, essv5009461, essv5059634, essv5010834, essv5099454, essv5051709, essv5051103, essv5146211, essv5160587, essv5090466, essv5119470, essv5030007, essv5021568, essv5054102, essv5156418, essv5150065, essv5107759, essv5085079, essv5033515, essv5133709, essv5159949, essv5079478, essv5144577, essv5143001, essv5050161, essv5139546, essv5046568, essv5124615, essv5043998, essv5139924, essv5048100, essv5010036, essv5145296, essv5010506, essv5065501, essv5134386, essv5074806, essv5160704, essv5149611, essv5109374, essv5096922, essv5159330, essv5095721, essv5034891, essv5140533, essv5135275, essv5041014, essv5010999, essv5155765, essv5122202, essv5068541, essv5018734, essv5129164, essv5083443, essv5155236, essv5105173, essv5041967, essv5052422, essv5131339, essv5044486, essv5091400, essv5151265, essv5117107, essv5135567, essv5073895, essv5031692, essv5133574, essv5118638, essv5089758, essv5063290, essv5136190, essv5040137, essv5105458, essv5057797, essv5094846, essv5002225, essv5144732, essv5140592, essv5099979, essv5069803, essv5143978, essv5110395, essv5126005, essv5153757, essv5145979, essv5142763, essv5095073, essv5140838, essv5001901, essv5051889, essv5010771, essv5128468, essv5119855, essv5133225, essv5049153, essv5014464, essv5153282, essv5138535, essv5094076, essv5016413, essv5083482, essv5104738, essv5126881, essv5050659, essv5095989, essv5009148, essv5021360, essv5106088, essv5081568, essv5075110, essv5027785, essv5137454, essv5095568, essv5078009, essv5044650, essv5117660, essv5110050, essv5068289, essv5030806, essv5003671, essv5070310, essv5031535, essv5120937, essv5106783, essv5119876, essv5084082, essv5140155, essv5097132, essv5069131, essv5014264, essv5012069, essv5155505, essv5112956, essv5099012, essv5150073, essv5130063, essv5122019, essv5117360, essv5085392, essv5133786, essv5091173, essv5022640, essv5150609, essv5092655, essv5154399, essv5039770, essv5053457, essv5052000, essv5047105, essv5011967, essv5051729, essv5136874, essv5155395, essv5081223, essv5144907, essv5072016, essv5124955, essv5034951, essv5151297, essv5006133, essv5087296, essv5142935, essv5054622, essv5025426, essv5132717, essv5116164, essv5149722, essv5106001, essv5058072, essv5037775, essv5116580, essv5074862, essv5018064, essv5022819, essv5026607, essv5047839, essv5004427, essv5047502, essv5030668, essv5145568, essv5022062, essv5101293, essv5025172, essv5011823, essv5098653, essv5063243, essv5029677, essv5062861, essv5121110, essv5024543, essv5119465, essv5031263, essv5145522, essv5025269, essv5109193, essv5016392, essv5065421, essv5041818, essv5059995, essv5143159, essv5137406, essv5121283, essv5075265, essv5068827, essv5125720, essv5029475, essv5133351, essv5129196, essv5108335, essv5090717, essv5086765, essv5066338, essv5097241, essv5059576, essv5037839, essv5062378, essv5030536, essv5063681, essv5154540, essv5108324, essv5081225, essv5065238, essv5068068, essv5152415, essv5064370, essv5077340, essv5139452, essv5028863, essv5087198, essv5044504, essv5055555, essv5074940, essv5032350, essv5155689, essv5095966, essv5005656, essv5152770, essv5140825, essv5126662, essv5064480, essv5091185, essv5076779, essv5098571, essv5078849, essv5014700, essv5052252, essv5044360, essv5096205, essv5042613, essv5047669, essv5111261, essv5019017, essv5067825, essv5161135, essv5081332, essv5121929, essv5068471, essv5038446, essv5075540, essv5030350, essv5134972, essv5114053, essv5013423, essv5152407, essv5115605, essv5061168, essv5114830, essv5055582, essv5082941, essv5007418, essv5113179, essv5088125, essv5030476, essv5121388, essv5117011, essv5149279, essv5068961, essv5059676, essv5106627, essv5044246, essv5031542, essv5108069, essv5125255, essv5033751, essv5042714, essv5022195, essv5141922, essv5038664, essv5067824, essv5128240, essv5037950, essv5115872, essv5054920, essv5147616, essv5028900, essv5100810, essv5064252, essv5146603, essv5098336, essv5025856, essv5052195, essv5012843, essv5127912, essv5081012, essv5019638, essv5105680, essv5004485, essv5043896, essv5079516, essv5107501, essv5101593, essv5149233, essv5092908, essv5044981, essv5052079, essv5122560, essv5003548, essv5103012, essv5013456, essv5148237, essv5134453, essv5113251, essv5155708, essv5038460, essv5105824, essv5024524, essv5143392, essv5047179, essv5096723, essv5140128, essv5139362, essv5073748, essv5053086, essv5049149, essv5008821, essv5149531, essv5058585, essv5052785, essv5082363, essv5031341, essv5134574, essv5116616, essv5046561, essv5034522, essv5156457, essv5118037, essv5014005, essv5073999, essv5052674, essv5008764, essv5010630, essv5084180, essv5061770, essv5047516, essv5128244, essv5030452, essv5159664, essv5072552, essv5156165, essv5132571, essv5044829, essv5011804, essv5145996, essv5088008, essv5012224, essv5086129, essv5019964, essv5072670, essv5097577, essv5094726, essv5052186, essv5143632, essv5111819, essv5071912, essv5059472, essv5023815, essv5137400, essv5063246, essv5057005, essv5152733, essv5051945, essv5110804, essv5068713, essv5138508, essv5012935, essv5040694, essv5039459, essv5118855, essv5064734, essv5097339, essv5015519, essv5097998, essv5059774, essv5018883, essv5048005, essv5113425, essv5100200, essv5132157, essv5147681, essv5118985, essv5139048, essv5068110, essv5062310, essv5022420, essv5087730, essv5114946, essv5079379, essv5003483, essv5114848, essv5045964, essv5021809, essv5151727, essv5123957, essv5015988, essv5063384, essv5054302, essv5066061, essv5136858, essv5033239, essv5136672, essv5046912, essv5023853, essv5077713, essv5154033, essv5118015, essv5091879, essv5058816, essv5158130, essv5147860, essv5076349, essv5133325, essv5149698, essv5081525, essv5069479, essv5148610, essv5099377, essv5080056, essv5043836, essv5074321, essv5134524, essv5026801, essv5080578, essv5019345, essv5148670, essv5075975, essv5052046, essv5095899, essv5125656, essv5117940, essv5046030, essv5007116, essv5004644, essv5113255, essv5144107, essv5135689, essv5054125, essv5029340, essv5146219, essv5017909, essv5077140, essv5061460 | | Samples | NA20588, NA19028, NA19058, NA21317, NA21111, NA20891, NA18947, NA19664, NA18647, NA18524, NA21099, NA21100, NA12843, NA11920, NA11931, NA18979, NA18999, NA12751, NA21489, NA21367, NA17990, NA12801, NA18504, NA21137, NA19684, NA19377, NA21738, NA21635, NA12832, NA18152, NA18633, NA20359, NA12750, NA19067, NA21776, NA12813, NA19446, NA21378, NA21359, NA20589, NA18995, NA19678, NA18107, NA19191, NA20911, NA20795, NA18101, NA18993, NA18558, NA18960, NA18618, NA21297, NA18916, NA21479, NA11918, NA18582, NA17983, NA19384, NA19079, NA18949, NA18136, NA20759, NA21574, NA19720, NA17997, NA18868, NA18160, NA19172, NA10850, NA17993, NA19036, NA19239, NA21420, NA18102, NA21387, NA20757, NA19985, NA20515, NA18129, NA19921, NA20360, NA12777, NA18951, NA21307, NA20892, NA18605, NA21587, NA19070, NA19056, NA21448, NA20297, NA21596, NA18674, NA12878, NA18118, NA20521, NA19184, NA20810, NA20883, NA19751, NA19081, NA12718, NA21631, NA20875, NA18572, NA18948, NA21617, NA21438, NA18981, NA20876, NA19064, NA18548, NA18537, NA12818, NA17979, NA20903, NA19142, NA20901, NA19084, NA21086, NA12829, NA21112, NA21295, NA19781, NA19750, NA18122, NA18532, NA12145, NA19059, NA12707, NA19009, NA18141, NA19452, NA07345, NA10856, NA21309, NA19625, NA18593, NA21316, NA21608, NA18108, NA20851, NA20799, NA18114, NA19652, NA18702, NA18517, NA21144, NA18863, NA19712, NA19434, NA18564, NA12057, NA19140, NA18628, NA20909, NA20870, NA19444, NA21685, NA12873, NA20520, NA18128, NA21768, NA19010, NA21718, NA19428, NA17970, NA21582, NA19083, NA18943, NA20281, NA21388, NA18615, NA19778, NA19182, NA20888, NA19662, NA17995, NA20906, NA19328, NA18631, NA19779, NA18134, NA18609, NA19102, NA18138, NA21722, NA21384, NA20826, NA20345, NA19044, NA18624, NA21487, NA19065, NA18147, NA18612, NA10837, NA19429, NA19074, NA18487, NA20898, NA19431, NA18577, NA11832, NA18143, NA21403, NA18998, NA20874, NA19237, NA18157, NA17969, NA21477, NA20853, NA19186, NA19055, NA19397, NA11995, NA18592, NA20292, NA12767, NA20899, NA18980, NA18166, NA21476, NA19763, NA18561, NA18599, NA17975, NA20813, NA18641, NA18603, NA12045, NA17966, NA21717, NA21115, NA20808, NA20346, NA19098, NA18526, NA12400, NA18962, NA12413, NA19068, NA19746, NA19660, NA19076, NA21371, NA20861, NA20890, NA18595, NA21526, NA19723, NA18635, NA20900, NA18860, NA20769, NA18105, NA19352, NA18942, NA19649, NA19653, NA19313, NA19054, NA20336, NA21510, NA19038, NA12761, NA18749, NA19651, NA21382, NA20896, NA21512, NA20340, NA19915, NA19075, NA18617, NA19471, NA19087, NA18131, NA12889, NA12815, NA19159, NA21825, NA19002, NA21716, NA21601, NA21362, NA19209, NA18973, NA18158, NA18150, NA19451, NA18638, NA20818, NA19007, NA18106, NA18613, NA19657, NA20858, NA20787, NA12342, NA19077, NA10863, NA19347, NA19748, NA19391, NA19327, NA18991, NA19788, NA21118, NA21098, NA18910, NA18976, NA20770, NA20344, NA18682, NA19776, NA18133, NA07045, NA17977, NA19118, NA19000, NA19031, NA20881, NA18946, NA12892, NA19001, NA19772, NA19225, NA20828, NA21583, NA19160, NA18536, NA21142, NA19659, NA21521, NA18576, NA21573, NA21143, NA19308, NA18978, NA11882, NA18162, NA20801, NA06997, NA19834, NA19108, NA18952, NA18543, NA20295, NA18559, NA12864, NA21527, NA07051, NA21733, NA21647, NA21517, NA19919, NA21615, NA20504, NA19310, NA10861, NA20803, NA18869, NA21094, NA21619, NA21513, NA20887, NA21125, NA20333, NA19376, NA19143, NA19078, NA21379, NA19109, NA21404, NA19472, NA19173, NA18987, NA12749, NA21101, NA12830, NA21614, NA21486, NA18149, NA17988, NA18972, NA18552, NA21385, NA21303, NA18696, NA07056, NA17981, NA19146, NA19148, NA20907, NA21514, NA21440, NA19046, NA18148, NA20509, NA12739, NA18745, NA12383, NA20882, NA19701, NA20761, NA18139, NA19703, NA21524, NA21423, NA20766, NA12286, NA20508, NA19066, NA18862, NA18855, NA20816, NA20752, NA17968, NA19350, NA18639, NA20294, NA12340, NA20332, NA18124, NA18959, NA18616, NA19443, NA21522, NA20771, NA18602, NA18969, NA18627, NA19107, NA07346, NA18563, NA17974, NA17986, NA18940, NA19319, NA17980, NA21520, NA18597, NA10846, NA21473, NA19307, NA19686, NA19062, NA07347, NA18571, NA21493, NA21108, NA21353, NA19130, NA20539, NA18159, NA12275, NA20518, NA21650, NA21529, NA21109, NA12156, NA19215, NA19372, NA18748, NA17996, NA18689, NA18966, NA19722, NA18154, NA18990, NA18557, NA21689, NA21344, NA18704, NA19027, NA20753, NA20301, NA18645, NA17998, NA19908, NA18747, NA12752, NA21575, NA19403, NA18117, NA20885, NA19161, NA19086, NA18694, NA18485, NA19455, NA21300, NA20862, NA12877, NA18579, NA18871, NA18534, NA21366, NA19202, NA20525, NA21308, NA18573, NA11919, NA20866, NA19150, NA18626, NA17999, NA18156, NA18930, NA12056, NA18857, NA17965, NA19761, NA18555, NA18963, NA18127, NA18570, NA18858, NA12546, NA18974, NA12043, NA18953, NA19375, NA20872, NA18632, NA18146, NA21117, NA19309, NA19390, NA19115, NA19149, NA19147, NA19747, NA21576, NA20815, NA19072, NA12272, NA21123, NA20530, NA20527, NA17989, NA20902, NA21390, NA19324, NA19311, NA20544, NA07348, NA19783, NA21361, NA17982, NA06994, NA07435, NA20847, NA21090, NA10843, NA07349, NA21102, NA19716, NA19468, NA18636, NA20289, NA19185, NA18155, NA11843, NA20758, NA19080, NA19711, NA18872, NA17972, NA20502, NA18957, NA11892, NA18968, NA18670, NA12890, NA19463, NA18623, NA19063, NA12154, NA21421, NA18740, NA18144, NA20908, NA20754, NA21091, NA19676, NA18620, NA18997, NA18120, NA11830, NA20543, NA21383, NA20877, NA21577, NA11829, NA18153, NA19914, NA21519, NA20531, NA21399, NA21092, NA19795, NA18545, NA07029, NA19393, NA21723, NA20805, NA19777, NA19057, NA18596, NA21386, NA12248, NA18125, NA21693, NA11891, NA18870, NA12155, NA21784, NA20846, NA18967, NA19374, NA20796, NA19005, NA18944, NA21405, NA21600, NA19448, NA20586, NA19119, NA20317, NA18619, NA12891, NA21355, NA11992, NA21401, NA18642, NA19771, NA19088, NA18161, NA21103, NA18964, NA20910, NA18611, NA21402, NA19404, NA11917, NA18970, NA19383, NA20819, NA18977, NA21454, NA19917, NA19137, NA19677, NA18112, NA19385, NA19317, NA21107, NA21478, NA20869, NA20343, NA21442, NA19456, NA19445, NA18975, NA18640, NA18954, NA21451, NA19200, NA21494, NA18614, NA18140, NA21599, NA20854, NA18544, NA21480, NA12335, NA19437, NA21318, NA20879, NA21682, NA10836, NA12343, NA10831, NA18109, NA18529, NA19236, NA20895, NA18939, NA18685, NA18151, NA18637, NA18132, NA12376, NA18503, NA18630, NA11839, NA10838, NA21116, NA18757, NA18566, NA21441, NA19774, NA21141, NA21339, NA17967, NA20538, NA21678, NA19113, NA21578, NA12827, NA12264, NA18135, NA19257, NA12766, NA19095, NA18945, NA19035, NA18546, NA21302, NA18608, NA21113, NA21424, NA20522, NA18542, NA12716, NA21719, NA19321, NA18961, NA17962, NA21311, NA20804, NA19240, NA19773, NA19380, NA20785, NA19439, NA18643, NA20797, NA19085, NA07055, NA18911, NA06986, NA18594, NA12708, NA12740, NA20302, NA18971, NA21580, NA21088, NA19060, NA18994, NA18500, NA17987, NA19096, NA21455, NA19213, NA20528, NA19661, NA21509, NA19757, NA19755, NA19224, NA18955, NA19775, NA21104, NA18622, NA18562, NA12776, NA18965, NA10865, NA21333 | | Known Genes | UGT2B17 | | Method | SNP array | | Analysis | To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays. | | Platform | Not specified | | Comments | | | Reference | Altshuler_et_al_2010 | | Pubmed ID | 20811451 | | Accession Number(s) | esv2421501
| | Frequency | | Sample Size | 1184 | | Observed Gain | 0 | | Observed Loss | 774 | | Observed Complex | 0 | | Frequency | n/a |
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