A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421710



Internal ID1219140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32641521..32664223hg38UCSC Ensembl
Innerchr6:32609298..32632000hg19UCSC Ensembl
Innerchr6:32717276..32739978hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3822703
hg1922703
hg1822703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5063013, essv5082111, essv5082503, essv5016069, essv5064000, essv5087216, essv5153749, essv5120347, essv5096413, essv5060351, essv5134343, essv5029133, essv5150233, essv5066102, essv5051572, essv5020290, essv5020055, essv5156091, essv5016407, essv5048502, essv5032145, essv5106287, essv5026044, essv5156567, essv5106302, essv5047793, essv5139770, essv5146476, essv5012945, essv5047248, essv5035703, essv5054495, essv5038991, essv5043130, essv5160526, essv5045234, essv5085091, essv5065549, essv5032504, essv5103739, essv5067854, essv5028495, essv5085685, essv5026917, essv5023336, essv5116861, essv5016871, essv5054419, essv5065366, essv5159040, essv5040856, essv5157837, essv5093553, essv5060501, essv5095279, essv5085302, essv5048625, essv5133074, essv5042216, essv5098178, essv5036011, essv5102807, essv5123779, essv5100483, essv5022632, essv5117934, essv5046299, essv5109623, essv5022944, essv5012023, essv5096380, essv5109644, essv5038219, essv5121142, essv5074025, essv5133049, essv5024045, essv5049090, essv5021211, essv5114075, essv5031201, essv5058129, essv5059873, essv5077499, essv5071015, essv5007070, essv5092421, essv5138849, essv5110312, essv5104263, essv5080890, essv5115441, essv5049267, essv5066463, essv5160677, essv5120949, essv5086681, essv5133681, essv5037032, essv5126002, essv5018442, essv5088156, essv5063415, essv5009056, essv5093027, essv5075129, essv5149392, essv5041235, essv5049343, essv5067236, essv5128085, essv5003544, essv5148892, essv5148381, essv5146591, essv5104070, essv5014301, essv5057392, essv5118238, essv5040628, essv5056379, essv5146248, essv5145716, essv5101595, essv5140695, essv5124245, essv5067635, essv5063301, essv5137556, essv5126627, essv5086926, essv5077421, essv5025556, essv5110915, essv5040981, essv5151295, essv5142244, essv5098842, essv5006072, essv5158109, essv5144923, essv5055934, essv5066394, essv5052322, essv5105616, essv5076742, essv5070970, essv5078359, essv5041291, essv5089449, essv5145736, essv5131252, essv5128690, essv5087166, essv5035323, essv5007448, essv5068379, essv5117515, essv5053035, essv5142768, essv5131182, essv5067015, essv5110706, essv5086673, essv5004936, essv5147165, essv5100937, essv5094257, essv5104717, essv5149017, essv5096197, essv5153744, essv5067293, essv5038644, essv5101007, essv5144597, essv5096693, essv5108582, essv5156670, essv5134273, essv5117128, essv5137277, essv5041921, essv5034481, essv5029632, essv5049212, essv5035433, essv5116583, essv5020510, essv5002368, essv5095460, essv5152518, essv5107284, essv5153777, essv5120393, essv5141648, essv5038182, essv5096017, essv5076170, essv5090420, essv5055550, essv5157115, essv5127071, essv5145170, essv5066196, essv5026205, essv5083989, essv5057839, essv5108453, essv5008412, essv5078908, essv5158958, essv5095931, essv5070926, essv5141456, essv5067317, essv5116041, essv5017501, essv5116750, essv5134894, essv5015163, essv5022650, essv5064611, essv5078325, essv5124290, essv5070098, essv5017146, essv5034189, essv5069569, essv5057641, essv5030357, essv5070880, essv5146276, essv5071185, essv5159764, essv5073569, essv5033709, essv5105590, essv5053854, essv5043447, essv5073914, essv5092231, essv5071828, essv5119788, essv5082849, essv5077063, essv5115587, essv5077311, essv5147960, essv5044424, essv5101168, essv5069220, essv5133205, essv5106428, essv5156941, essv5071415, essv5104146, essv5108124, essv5155539, essv5077578, essv5134561, essv5073281, essv5068841, essv5133694, essv5135673, essv5020557, essv5084484, essv5133153, essv5145166, essv5033837, essv5091227, essv5138682, essv5039489, essv5107027, essv5023361, essv5126859, essv5002655, essv5089370, essv5149253, essv5134943, essv5002062, essv5030487, essv5109730, essv5095947, essv5123865, essv5083880, essv5086569, essv5102020, essv5125753, essv5132631, essv5003212, essv5109165, essv5040470, essv5114079, essv5004408, essv5114597, essv5078547, essv5014641, essv5050421, essv5097237, essv5113443, essv5090021, essv5028173, essv5073729, essv5096166, essv5150247, essv5118243, essv5128679, essv5097698, essv5036223, essv5120675, essv5017062, essv5137805, essv5017046, essv5098808, essv5144199, essv5086561, essv5057456, essv5010074, essv5008896, essv5039743, essv5111407, essv5020220, essv5152963, essv5047520, essv5090446, essv5130546, essv5093221, essv5123861, essv5151715, essv5129724, essv5114064, essv5043114, essv5100689, essv5152919, essv5116207, essv5141075, essv5133423, essv5133900, essv5071267, essv5101947, essv5122439, essv5089399, essv5158527, essv5061404, essv5065570, essv5094101, essv5153045, essv5040348, essv5061390, essv5153774, essv5127614, essv5059199, essv5113124, essv5065847, essv5019396, essv5094515, essv5093083, essv5134023, essv5038994, essv5154409, essv5089516, essv5147116, essv5152802, essv5152803, essv5160651, essv5011338, essv5006547, essv5130808, essv5056619, essv5094434, essv5109486, essv5111292, essv5124484, essv5066923, essv5136174, essv5011286, essv5094513, essv5052127, essv5101043, essv5057504, essv5136407, essv5097526, essv5117785, essv5041074, essv5149351, essv5158834, essv5013257, essv5060318, essv5029325, essv5101478, essv5110839, essv5152534, essv5013028, essv5120641, essv5139568, essv5032851, essv5085150, essv5017179, essv5004606, essv5003402, essv5113677, essv5080926, essv5099791, essv5032078, essv5039453, essv5139689, essv5135678, essv5103315, essv5037338, essv5008539, essv5146637, essv5070830, essv5128924, essv5121971, essv5101893, essv5154782, essv5146067, essv5021937, essv5092260, essv5066478, essv5058340, essv5095731, essv5090434, essv5132808, essv5008121, essv5094094, essv5110543, essv5004921, essv5094663, essv5090292, essv5025446, essv5120637, essv5158293, essv5105884, essv5121714, essv5078017, essv5134873, essv5033032, essv5091980, essv5123973, essv5049693, essv5117125, essv5131079, essv5063808, essv5018219, essv5015945, essv5088960, essv5045874, essv5058863, essv5033197, essv5102937, essv5017897, essv5137444, essv5133374, essv5089509, essv5107334, essv5072732, essv5145592, essv5157899, essv5147055, essv5121318, essv5158556, essv5086764, essv5068782, essv5139597, essv5123487, essv5149855, essv5026658, essv5096933, essv5073723, essv5101808, essv5132500, essv5104135, essv5015835, essv5096308, essv5093668, essv5062691, essv5053909, essv5066143, essv5113663, essv5041176, essv5090400, essv5134884, essv5063654, essv5009943, essv5117384, essv5002895, essv5134801, essv5110785, essv5125909, essv5150966, essv5094876, essv5083259, essv5095597, essv5115497, essv5067026, essv5142662, essv5112304, essv5004330, essv5129759, essv5064054, essv5131717, essv5065585, essv5029686, essv5090144, essv5157285, essv5095080, essv5129490, essv5070753, essv5033109, essv5121515, essv5012047, essv5041865, essv5113716, essv5110316, essv5065227, essv5157638, essv5022649, essv5001918, essv5121266, essv5132684, essv5090713, essv5038898, essv5092031, essv5101092, essv5031694, essv5080842, essv5109617, essv5142869, essv5043583, essv5091247, essv5114890, essv5063721, essv5146884, essv5082661, essv5142077, essv5015558, essv5114174, essv5105998, essv5151197, essv5102479, essv5032506, essv5041189, essv5078747, essv5159052, essv5027410, essv5126675, essv5051485, essv5113710, essv5131915, essv5044279, essv5071838, essv5111590, essv5012595, essv5066369, essv5023404, essv5146065, essv5124183, essv5082793, essv5102687, essv5124377, essv5155014, essv5002043, essv5058169, essv5012139, essv5033454, essv5062913, essv5029179, essv5095094, essv5005088, essv5113549, essv5054717, essv5033034, essv5062643, essv5062599, essv5052812, essv5155860, essv5005323, essv5095392, essv5056353, essv5104957, essv5050861, essv5160334, essv5116323, essv5074952, essv5076276, essv5031840, essv5145887, essv5034792, essv5044164, essv5056490, essv5141268, essv5134138, essv5063856, essv5037051, essv5070668, essv5099852, essv5131050, essv5023637, essv5061197, essv5017568, essv5135559, essv5104714, essv5138840, essv5105055, essv5070480, essv5102620, essv5040351, essv5040899, essv5006362, essv5014755, essv5154871, essv5063570, essv5002286, essv5015625, essv5115589, essv5029818, essv5077984, essv5125423, essv5006739, essv5151887, essv5101938, essv5028195, essv5005216, essv5123563, essv5120702, essv5108241, essv5107376, essv5023088, essv5024736, essv5049086, essv5080863, essv5153561, essv5092734, essv5051330, essv5062567, essv5141439, essv5069469, essv5111494, essv5122619, essv5061114, essv5092447, essv5080618, essv5109704, essv5009577, essv5112224, essv5068932, essv5123397, essv5141854, essv5037885, essv5135013, essv5095455, essv5114160, essv5014990, essv5122081, essv5125461, essv5009551, essv5069163, essv5044088, essv5025197, essv5028054, essv5037632, essv5015339, essv5075484, essv5093169, essv5065688, essv5078681, essv5003898, essv5055642, essv5036795, essv5061747, essv5081961, essv5047451, essv5042896, essv5143123, essv5057603, essv5062489, essv5066164, essv5076878, essv5088634, essv5129074, essv5035639, essv5159534, essv5058127, essv5155749, essv5030200, essv5028277, essv5085590, essv5015976, essv5045520, essv5153873, essv5118602, essv5077420, essv5092113, essv5082891, essv5159197, essv5062633, essv5043235, essv5114461, essv5124198, essv5140972, essv5054695, essv5161134, essv5086394, essv5109379, essv5011924, essv5112065, essv5138934, essv5135572, essv5067254, essv5078713, essv5070002, essv5035360, essv5065907, essv5002793, essv5050330, essv5053425, essv5038360, essv5079250, essv5054758, essv5120463, essv5095325, essv5145744, essv5067833, essv5059814, essv5111212, essv5121177, essv5136956, essv5088267, essv5009749, essv5091419, essv5042180, essv5111629, essv5149886, essv5043318, essv5019558, essv5007573, essv5037695, essv5035175, essv5045133, essv5067612, essv5123715, essv5035678, essv5109225, essv5008929, essv5153632, essv5126294, essv5081224, essv5100623, essv5014511, essv5054401, essv5021547, essv5044058, essv5132672, essv5107880, essv5038401, essv5113933, essv5107752, essv5074945, essv5143956, essv5035195, essv5155915, essv5065516, essv5033947, essv5075293, essv5060517, essv5076672, essv5112941, essv5114131, essv5048925, essv5045862, essv5040360, essv5114721, essv5105615, essv5081472, essv5059660, essv5080219, essv5147284, essv5058653, essv5091222, essv5137377, essv5137133, essv5060812, essv5020849, essv5112938, essv5077777, essv5029320, essv5027708, essv5141382, essv5080156, essv5064794, essv5066260, essv5050347, essv5160516, essv5098422, essv5125666, essv5150217, essv5088443, essv5107808, essv5053078, essv5064747, essv5072653, essv5145279, essv5074786, essv5105820, essv5133674, essv5014910, essv5131669, essv5013665, essv5097498, essv5007635, essv5120335, essv5132218, essv5132702, essv5040680, essv5025899, essv5024977, essv5120134, essv5123961, essv5002228, essv5100407, essv5083676, essv5022459, essv5021032, essv5093231, essv5123813, essv5109049, essv5126124, essv5139646, essv5074297, essv5088756, essv5047145, essv5143302, essv5148941, essv5122730, essv5110850, essv5118954, essv5130950, essv5153733, essv5104518, essv5070237, essv5142617, essv5111473, essv5026114, essv5047890, essv5113164, essv5073457, essv5140787, essv5099155, essv5130084, essv5057967, essv5040914, essv5019585, essv5098573, essv5055219, essv5142901, essv5004210, essv5137908, essv5100339, essv5099920, essv5121912, essv5124897, essv5097229, essv5136760, essv5053930, essv5125830, essv5154762, essv5126995, essv5077710, essv5029823, essv5086325, essv5135177, essv5139057, essv5053508, essv5076501, essv5069737, essv5142956, essv5125293, essv5049650, essv5134661, essv5129277, essv5151475, essv5112568, essv5059899, essv5134142, essv5111477, essv5097893, essv5112276, essv5100025, essv5003289, essv5099096, essv5127747, essv5025981, essv5144561, essv5098070, essv5075648, essv5145962, essv5058990, essv5084428, essv5007700, essv5052673, essv5041780, essv5155258, essv5055055, essv5097394, essv5141472, essv5142146, essv5151406, essv5067443, essv5031387, essv5104815, essv5005590, essv5009952, essv5122552, essv5006382, essv5142963, essv5148593, essv5121708, essv5003009, essv5062796, essv5022240, essv5002284, essv5069932, essv5060732, essv5083558, essv5126988, essv5030945, essv5036308, essv5031247, essv5102956, essv5029503, essv5155668, essv5065277, essv5071929, essv5135309, essv5021426, essv5045676, essv5040881, essv5087720, essv5112552, essv5087787, essv5002487, essv5083217, essv5026352, essv5140845, essv5023237, essv5084938, essv5040218, essv5128174, essv5112705, essv5139747, essv5057435, essv5033716, essv5129438, essv5052388, essv5155986
SamplesNA10859, NA17989, NA18503, NA19146, NA21634, NA19207, NA18870, NA19248, NA20876, NA12154, NA21723, NA21512, NA17999, NA19757, NA18951, NA19192, NA18914, NA21631, NA18871, NA20907, NA12286, NA19081, NA07349, NA12801, NA20752, NA21320, NA21613, NA20851, NA18757, NA21447, NA12347, NA19120, NA20544, NA20796, NA11918, NA19469, NA20346, NA21685, NA12264, NA17982, NA19223, NA19435, NA18516, NA12707, NA19334, NA19788, NA20800, NA17981, NA18953, NA18517, NA19109, NA21825, NA18161, NA20894, NA21415, NA17969, NA19144, NA18546, NA07348, NA10853, NA18507, NA19760, NA10855, NA21357, NA21425, NA20805, NA19685, NA11891, NA19257, NA20845, NA21312, NA18156, NA19701, NA19180, NA21611, NA12766, NA18505, NA19151, NA19208, NA20803, NA20853, NA18862, NA21384, NA18139, NA19028, NA20505, NA20856, NA11919, NA12763, NA19239, NA19650, NA21111, NA18627, NA11839, NA11840, NA19076, NA18114, NA18154, NA19199, NA19309, NA18150, NA18635, NA19675, NA19197, NA19443, NA18623, NA19471, NA19107, NA19444, NA20530, NA18990, NA18143, NA18636, NA19083, NA19088, NA19096, NA21363, NA12273, NA12761, NA18956, NA19429, NA21513, NA21116, NA21119, NA21647, NA11843, NA17977, NA19985, NA11831, NA18485, NA11894, NA12400, NA18637, NA20520, NA18593, NA19181, NA21408, NA21451, NA12234, NA19086, NA21399, NA12144, NA20847, NA19324, NA19190, NA21491, NA19000, NA19055, NA21442, NA19721, NA18144, NA19360, NA19725, NA20128, NA12239, NA18149, NA18640, NA18696, NA18515, NA19189, NA17966, NA19372, NA18633, NA19680, NA20760, NA21316, NA12778, NA12348, NA12877, NA19716, NA21339, NA21107, NA12275, NA18674, NA21379, NA19215, NA18106, NA19139, NA17967, NA21485, NA19763, NA11892, NA18925, NA20290, NA10836, NA20766, NA18136, NA18910, NA21092, NA19711, NA18940, NA21101, NA18987, NA12890, NA19921, NA21378, NA19376, NA19794, NA21682, NA19035, NA19391, NA19723, NA20276, NA20302, NA06991, NA18740, NA19128, NA12812, NA18857, NA19009, NA20850, NA17975, NA19116, NA18631, NA20337, NA20287, NA19097, NA19132, NA19755, NA19818, NA07022, NA21086, NA19778, NA21089, NA21362, NA18548, NA11830, NA17976, NA18944, NA18689, NA21436, NA20869, NA18924, NA19198, NA20758, NA21597, NA20872, NA10840, NA11829, NA19130, NA19240, NA21719, NA21355, NA20804, NA18555, NA19385, NA21573, NA19779, NA19202, NA19659, NA21494, NA10854, NA10861, NA07435, NA20281, NA19137, NA19183, NA10831, NA19714, NA18964, NA12043, NA19445, NA19796, NA18861, NA19352, NA21490, NA11930, NA12344, NA18158, NA21125, NA07037, NA21524, NA20349, NA20859, NA20785, NA20866, NA20506, NA21580, NA18117, NA18952, NA18975, NA18874, NA19173, NA12875, NA20516, NA21307, NA20508, NA17990, NA19149, NA18550, NA19748, NA19455, NA18639, NA20294, NA20802, NA20881, NA20775, NA18948, NA11931, NA19317, NA19751, NA21118, NA18972, NA19010, NA18573, NA21403, NA20786, NA18542, NA19782, NA18702, NA18484, NA19210, NA19834, NA19983, NA20588, NA20363, NA19656, NA19678, NA21457, NA21295, NA18965, NA21489, NA17979, NA18704, NA19780, NA19308, NA19467, NA20877, NA19147, NA21528, NA19654, NA20586, NA10863, NA18559, NA19914, NA18670, NA17986, NA19067, NA19982, NA18624, NA18934, NA18508, NA21108, NA21137, NA20819, NA21686, NA12282, NA20356, NA12336, NA19662, NA18957, NA11994, NA19068, NA19660, NA12155, NA20757, NA19722, NA12762, NA20783, NA12343, NA20807, NA12740, NA21359, NA19398, NA19066, NA21453, NA20541, NA19774, NA20765, NA21477, NA19182, NA21523, NA19681, NA21608, NA19679, NA19727, NA21144, NA19918, NA18634, NA18970, NA19316, NA19684, NA19919, NA20773, NA12006, NA21099, NA19790, NA20901, NA19153, NA18518, NA18620, NA18135, NA19703, NA21311, NA19393, NA20126, NA21318, NA20512, NA19206, NA21717, NA19784, NA21434, NA18132, NA19657, NA20540, NA18558, NA18102, NA18155, NA12872, NA19704, NA20350, NA20818, NA21619, NA18564, NA18858, NA18942, NA20828, NA19332, NA18613, NA19221, NA18125, NA19462, NA20879, NA18945, NA20360, NA18543, NA21103, NA21401, NA20297, NA21486, NA18582, NA18999, NA20581, NA12739, NA20333, NA18552, NA19038, NA20534, NA21521, NA21635, NA18599, NA18911, NA19101, NA21420, NA12749, NA18995, NA21344, NA20799, NA06984, NA18872, NA19683, NA18133, NA12156, NA12386, NA06995, NA21389, NA10835, NA18129, NA17980, NA19719, NA21402, NA18971, NA19434, NA10830, NA18602, NA19099, NA19446, NA20509, NA18146, NA19649, NA20300, NA19452, NA21620, NA18141, NA11992, NA12003, NA18946, NA19064, NA19770, NA19781, NA19749, NA19063, NA18917, NA12399, NA19399, NA20812, NA21405, NA21414, NA12842, NA19160, NA21583, NA18571, NA19179, NA19916, NA19772, NA19070, NA19118, NA19470, NA21356, NA18611, NA19171, NA20768, NA20528, NA17968, NA18532, NA18853, NA18935, NA21614, NA19079, NA19249, NA19381, NA19473, NA20524, NA06994, NA18913, NA12760, NA17965, NA19448, NA20502, NA20517, NA20772, NA20538, NA12335, NA19750, NA19007, NA20519, NA21365, NA20301, NA18519, NA19065, NA20279, NA20899, NA07000, NA12775, NA19058, NA19121, NA18980, NA07031, NA21617, NA12767, NA18621, NA20903, NA21417, NA12489, NA19194, NA21438, NA07347, NA20787, NA19031, NA19214, NA19712, NA21441, NA18509, NA18520, 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Known GenesHLA-DQA1, HLA-DQB1
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421710
Frequency
Sample Size1184
Observed Gain0
Observed Loss957
Observed Complex0
Frequencyn/a


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