A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421676



Internal ID8252124
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:31312324..31373563hg38UCSC Ensembl
Innerchr6:31280101..31341340hg19UCSC Ensembl
Innerchr6:31388080..31449319hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3861240
hg1961240
hg1861240
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5020545, essv5078689, essv5055890, essv5003503, essv5149186, essv5083262, essv5030115, essv5145615, essv5013075, essv5128356, essv5039411, essv5098130, essv5011138, essv5112229, essv5147968, essv5008025, essv5070368, essv5040196, essv5012491, essv5064193, essv5054399, essv5011406, essv5146136, essv5148353, essv5043379, essv5002390, essv5113531, essv5070675, essv5114078, essv5093160, essv5088086, essv5128828, essv5151134, essv5021469, essv5131256, essv5130272, essv5105295, essv5014367, essv5041619, essv5031660, essv5157309, essv5050559, essv5056702, essv5074020, essv5096733, essv5071574, essv5138567, essv5066507, essv5004844, essv5118774, essv5042212, essv5067231, essv5122512, essv5138587, essv5128882, essv5032445, essv5060877, essv5104911, essv5151689, essv5127928, essv5113959, essv5101184, essv5099237, essv5155848, essv5088174, essv5125184, essv5046828, essv5006864, essv5063838, essv5064732, essv5052340, essv5095457, essv5119619, essv5098932, essv5077441, essv5154661, essv5098858, essv5069743, essv5098113, essv5004010, essv5084286, essv5009217, essv5151404, essv5036882, essv5021276, essv5059373, essv5067120, essv5152332, essv5136344, essv5137223, essv5088381, essv5071806, essv5149364, essv5104268, essv5082055, essv5138869, essv5077782, essv5150899, essv5071319, essv5115071, essv5115314, essv5044526, essv5005540, essv5073522, essv5118033, essv5126793, essv5042266, essv5020743, essv5001981, essv5017792, essv5024254, essv5061308, essv5073202, essv5068955, essv5036636, essv5118309, essv5084666, essv5086145, essv5040334, essv5029479, essv5098886, essv5070923, essv5141056, essv5075075, essv5106667, essv5066158, essv5060242, essv5110173, essv5076381, essv5024759, essv5030565, essv5106994, essv5039116, essv5009751, essv5122384, essv5029857, essv5107502, essv5046086, essv5041301, essv5031712, essv5108610, essv5097709, essv5158601, essv5129384, essv5089700, essv5109645, essv5114794, essv5106723, essv5014833, essv5094653, essv5019950, essv5010553, essv5125115, essv5109805, essv5019864, essv5065271, essv5118006, essv5143604, essv5038719, essv5021241, essv5107417, essv5099955, essv5035999, essv5082011, essv5063399, essv5035350, essv5155659, essv5151560, essv5011881, essv5033559, essv5009025, essv5021753, essv5131826, essv5088853, essv5056171, essv5153022, essv5061820, essv5124748, essv5087186, essv5039592, essv5077013, essv5051006, essv5056195, essv5011965, essv5072671, essv5043316, essv5070507, essv5038540, essv5008982, essv5157851, essv5065931, essv5121642, essv5018124, essv5101285, essv5022083, essv5046127, essv5060398, essv5087607, essv5147797, essv5159124, essv5123450, essv5106355, essv5038103, essv5014143, essv5061873, essv5109441, essv5093036, essv5077671, essv5036916, essv5040232, essv5060743, essv5152847, essv5041891, essv5077453, essv5158935, essv5139188, essv5055330, essv5002985, essv5121938, essv5040487, essv5151828, essv5055917, essv5037442, essv5004722, essv5152398, essv5144812, essv5023172, essv5127506, essv5070845, essv5087488, essv5147910, essv5095379, essv5022328, essv5092096, essv5151100, essv5089143, essv5052191, essv5007544, essv5124991, essv5112190, essv5148729, essv5144372, essv5015972, essv5027346, essv5132802, essv5084239, essv5090719, essv5053060, essv5019357, essv5071759, essv5146430, essv5013823, essv5149752, essv5009845, essv5128963, essv5152844, essv5125718, essv5113632, essv5138446, essv5095585, essv5059907, essv5131443, essv5078252, essv5018822, essv5103723, essv5096561, essv5045303, essv5020826, essv5028964, essv5112407, essv5017649, essv5089121, essv5015803, essv5037220, essv5007843, essv5054529, essv5145181, essv5005769, essv5008898, essv5025792, essv5145631, essv5121178, essv5076036, essv5006371, essv5157799, essv5148543, essv5009079, essv5094161, essv5003968, essv5053652, essv5049060, essv5100077, essv5041712, essv5084720, essv5079500, essv5097506, essv5055214, essv5024300, essv5047618, essv5090107, essv5158724, essv5139534, essv5157148, essv5107297, essv5134078, essv5034803, essv5111144, essv5004799, essv5045063, essv5002697, essv5146359, essv5018832, essv5065735, essv5022514, essv5158463, essv5081747, essv5047091, essv5004150, essv5109365, essv5083960, essv5119127, essv5097206, essv5124663, essv5004893, essv5095618, essv5020549, essv5067357, essv5139523, essv5086475, essv5040197, essv5133160, essv5135085, essv5106549, essv5094258, essv5002263, essv5143702, essv5065084, essv5133008, essv5086994, essv5066526, essv5109476, essv5134432, essv5147740, essv5153804, essv5019321, essv5117380, essv5108772, essv5106262, essv5155710, essv5152251, essv5103184, essv5157858, essv5141261, essv5052828, essv5041696, essv5062804, essv5124736, essv5096059, essv5112875, essv5084618, essv5019124, essv5060484, essv5105536, essv5012675, essv5131696, essv5032421, essv5070214, essv5144406, essv5134765, essv5112352, essv5061275, essv5130320, essv5084258, essv5015831, essv5146038, essv5033731, essv5115357, essv5111739, essv5144119, essv5126129, essv5036914, essv5104045, essv5091326, essv5011254, essv5015053, essv5082634, essv5060429, essv5090460, essv5059940, essv5013380, essv5100556, essv5007074, essv5017040, essv5036783, essv5061359, essv5018989, essv5149438, essv5062433, essv5051389, essv5019318, essv5092545, essv5103498, essv5051173, essv5148099, essv5139165, essv5117579, essv5046025, essv5083426, essv5046426, essv5143815, essv5111837, essv5099225, essv5118568, essv5138686, essv5142780, essv5002566, essv5062823, essv5077733, essv5007256, essv5155096, essv5106986, essv5156734, essv5101771, essv5074389, essv5154066, essv5147799, essv5010182, essv5143716, essv5039315, essv5007709, essv5064749, essv5075460, essv5022829, essv5057061, essv5112454, essv5047959, essv5104402, essv5049747, essv5043082, essv5038366, essv5021423, essv5006007, essv5026541, essv5123453, essv5037906, essv5023074, essv5131217, essv5010978, essv5100397, essv5012312, essv5139736, essv5080939, essv5130756, essv5082340, essv5060392, essv5057037, essv5141084, essv5101834, essv5034371, essv5102536, essv5127480, essv5095515, essv5109988, essv5101584, essv5091919, essv5068187, essv5010996, essv5117116, essv5112750, essv5091809, essv5125307, essv5053164, essv5078398, essv5029605, essv5004296, essv5006193, essv5076478, essv5008887, essv5108062, essv5045768, essv5044485, essv5021082, essv5012815, essv5160521, essv5046345, essv5107611, essv5132171, essv5062544, essv5061454, essv5108133, essv5160613, essv5076439, essv5140270, essv5025987, essv5139160, essv5034077, essv5072416, essv5148051, essv5066726, essv5058274, essv5112460, essv5031383, essv5021425, essv5054117, essv5092833, essv5089311, essv5143838, essv5025782, essv5120832, essv5032337, essv5003270, essv5102453, essv5042020, essv5121657, essv5136069, essv5055712, essv5069072, essv5091850, essv5114202, essv5067383, essv5035707, essv5015504, essv5126174, essv5048273, essv5128522, essv5024867, essv5016401, essv5115140, essv5006631, essv5011114, essv5156209, essv5071747, essv5144978, essv5076265, essv5025623, essv5066120, essv5039120, essv5106848, essv5157436, essv5137043, essv5023884, essv5023800, essv5013203, essv5136747, essv5136314, essv5123198, essv5090391, essv5028801, essv5134222, essv5080658, essv5040779, essv5008322, essv5082027, essv5038573, essv5057870, essv5028760, essv5058065, essv5025004, essv5007289, essv5085006, essv5155685, essv5082403, essv5051263, essv5137860, essv5066645, essv5043758, essv5011130, essv5005346, essv5073703, essv5071011, essv5053153, essv5013324, essv5147670, essv5142532, essv5077440, essv5074669, essv5105608, essv5076890, essv5120477, essv5026191, essv5117050, essv5091783, essv5094524, essv5122480, essv5021769, essv5054928, essv5052684, essv5135737, essv5129942, essv5129585, essv5050444, essv5110637, essv5050706, essv5003678, essv5158543, essv5017133, essv5042062, essv5119995, essv5103810, essv5057925, essv5041216, essv5134286, essv5038075, essv5121732, essv5033493, essv5119997, essv5029211, essv5080838, essv5073076, essv5138366, essv5119594, essv5012847, essv5159681, essv5159038, essv5146179, essv5056748, essv5041268, essv5076409, essv5086472, essv5134143, essv5111634, essv5054387, essv5013246, essv5073052, essv5117204, essv5084850, essv5005711, essv5084651, essv5071573, essv5108334, essv5147673, essv5125251, essv5102629, essv5086507, essv5013394, essv5063153, essv5073853, essv5160242, essv5045881, essv5074087, essv5135772, essv5082652, essv5043628, essv5129726, essv5083716, essv5071668, essv5080278, essv5094569, essv5130969, essv5059860, essv5019539, essv5155931, essv5095959, essv5138004, essv5128638, essv5144471, essv5064130, essv5032392, essv5119413, essv5063192, essv5074456, essv5116473, essv5020858, essv5146774, essv5092071, essv5104638, essv5108118, essv5043788, essv5102725, essv5075709, essv5020256, essv5064035, essv5147025, essv5079826, essv5067742, essv5122990, essv5051068, essv5012471, essv5086341, essv5106265, essv5156391, essv5105242, essv5008380, essv5003084, essv5011996, essv5114924, essv5094344, essv5005136, essv5054190, essv5042844, essv5089595, essv5106468, essv5025501, essv5007299, essv5130887, essv5041373, essv5022712, essv5117622, essv5022940, essv5078273, essv5122711, essv5078245, essv5077908, essv5027747, essv5111377, essv5137280, essv5137390, essv5043289, essv5105343, essv5156825, essv5152480, essv5041623, essv5144162, essv5071683, essv5044823, essv5140276, essv5137913, essv5128310, essv5003228, essv5094509, essv5008449, essv5156530, essv5138081, essv5099815, essv5026574, essv5080961, essv5045622, essv5062909, essv5018245, essv5103731, essv5052499, essv5011143, essv5081561, essv5060127, essv5055001, essv5029748, essv5018108, essv5055617, essv5118284, essv5151566, essv5097494, essv5054066, essv5131085, essv5150138, essv5144945, essv5093645, essv5101842, essv5092067, essv5011675
SamplesNA19028, NA21317, NA21683, NA20891, NA18621, NA19664, NA18524, NA12843, NA11920, NA11931, NA18979, NA18999, NA20512, NA12751, NA21489, NA21457, NA21367, NA12801, NA18504, NA12146, NA19684, NA21408, NA21738, NA12832, NA18633, NA12750, NA20806, NA19067, NA21776, NA21434, NA12813, NA19446, NA19127, NA20589, NA18995, NA19678, NA19191, NA20756, NA20911, NA20795, NA18101, NA18993, NA18960, NA21297, NA18916, NA11918, NA18582, NA20768, NA19650, NA12762, NA19384, NA20291, NA19079, NA18949, NA18136, NA20759, NA21574, NA19720, NA20775, NA20812, NA07014, NA19238, NA17993, NA19036, NA21523, NA21357, NA21420, NA18102, NA21400, NA19985, NA20515, NA19789, NA19921, NA12777, NA18951, NA18605, NA20535, NA12760, NA20800, NA19120, NA19070, NA19056, NA21448, NA20297, NA21596, NA12878, NA18118, NA20521, NA20810, NA20760, NA19663, NA19176, NA20883, NA19751, NA12718, NA21631, NA20519, NA18572, NA21617, NA18981, NA12234, NA19064, NA18548, NA17979, NA20903, NA19142, NA20901, NA21086, NA18875, NA12829, NA21112, NA19181, NA11840, NA19781, NA18122, NA06989, NA19059, NA12707, NA18141, NA19682, NA19318, NA10856, NA21309, NA19625, NA18593, NA21316, NA21608, NA18108, NA20851, NA20799, NA18114, NA18702, NA19256, NA18517, NA21144, NA18863, NA19434, NA18564, NA19140, NA18628, NA21528, NA21336, NA19444, NA21685, NA20520, NA21768, NA19010, NA21718, NA17970, NA21582, NA19083, NA18943, NA20281, NA19360, NA12763, NA19778, NA19182, NA17995, NA19328, NA21435, NA18631, NA19779, NA18134, NA18609, NA19770, NA18138, NA21722, NA21384, NA20826, NA20345, NA19129, NA19044, NA18624, NA21491, NA18147, NA10837, NA19429, NA19074, NA18487, NA19431, NA18577, NA11832, NA20772, NA18143, NA21403, NA18998, NA19237, NA19700, NA21477, NA20853, NA19055, NA19794, NA19397, NA18924, NA19466, NA19249, NA11995, NA18592, NA12814, NA20292, NA18166, NA21476, NA19763, NA19122, NA21597, NA20813, NA18641, NA12045, NA17966, NA19819, NA21717, NA12865, NA20808, NA20346, NA19669, NA19836, NA19190, NA19098, NA12400, NA18962, NA12413, NA19068, NA19746, NA19660, NA19076, NA21371, NA18550, NA12812, NA20890, NA18595, NA19723, NA18635, NA18105, NA19352, NA18942, NA19649, NA20540, NA12287, NA19054, NA19681, NA20336, NA21510, NA19038, NA12761, NA18749, NA12282, NA12005, NA21447, NA19651, NA21382, NA20896, NA21512, NA10853, NA20340, NA19371, NA21525, NA19075, NA18617, NA19087, NA18131, NA12889, NA12815, NA19159, NA21825, NA21716, NA20884, NA19725, NA21601, NA19721, NA19209, NA12828, NA12375, NA18973, NA18158, NA20129, NA12748, NA19007, NA18106, NA18613, NA20858, NA20787, NA20524, NA12753, NA10863, NA12872, NA20809, NA18859, NA19748, NA19327, NA18991, NA19982, NA21439, NA18910, NA18976, NA18682, NA19776, NA18133, NA07045, NA07031, NA20859, NA21826, NA18946, NA12892, NA19001, NA19772, NA12239, NA20282, NA20828, NA21583, NA20542, NA21521, NA21143, NA18978, NA19680, NA11882, NA18162, NA20801, NA11881, NA19834, NA19108, NA18952, NA18543, NA12864, NA19749, NA07051, NA21616, NA21733, NA19919, NA21615, NA20504, NA20803, NA21094, NA20887, NA21125, NA20341, NA19790, NA19818, NA19759, NA19078, NA21379, NA19248, NA19438, NA21404, NA20582, NA18987, NA12749, NA19828, NA19713, NA12830, NA20807, NA21486, NA21418, NA17988, NA18972, NA18552, NA21385, NA21303, NA18696, NA07056, NA18505, NA17981, NA19146, NA20322, NA21514, NA19046, NA18148, NA10864, NA19153, NA20509, NA12739, NA19258, NA20882, NA19701, NA20761, NA18139, NA19703, NA21524, NA21423, NA20766, NA12286, NA20508, NA19066, NA19204, NA18862, NA18861, NA12273, NA21352, NA12344, NA20816, NA17968, NA20873, NA18639, NA19359, NA20294, NA18124, NA18959, NA21301, NA21360, NA20364, NA20356, NA20771, NA12399, NA18602, NA18969, NA18627, NA18563, NA18940, NA18597, NA10846, NA10854, NA21473, NA19307, NA20774, NA12802, NA19686, NA19062, NA07347, NA19724, NA19784, NA19457, NA21108, NA21353, NA21381, NA21365, NA21391, NA11930, NA20539, NA18159, NA19041, NA12275, NA20518, NA21650, NA21529, NA21109, NA12044, NA11994, NA19235, NA18748, NA17996, NA19702, NA19128, NA18990, NA21689, NA19708, NA10839, NA21417, NA20127, NA21344, NA21105, NA19027, NA20753, NA18645, NA21415, NA21313, NA19908, NA12752, NA21575, NA07022, NA18117, NA21119, NA20885, NA19161, NA19086, NA18694, NA19455, NA21300, NA20862, NA12877, NA19683, NA18579, NA20358, NA19202, NA20525, NA19654, NA21308, NA11919, NA20866, NA12386, NA17999, NA19151, NA18156, NA18930, NA20856, NA19154, NA18857, NA19656, NA19718, NA19099, NA19761, NA18555, NA18963, NA12144, NA18127, NA18858, NA18974, NA12043, NA18953, NA18632, NA18146, NA06991, NA21117, NA19309, NA19390, NA19149, NA19147, NA20276, NA21576, NA20815, NA19072, NA18913, NA12272, NA21368, NA21123, NA20527, NA19835, NA20792, NA20544, NA19783, NA17982, NA18501, NA07435, NA21090, NA19178, NA20849, NA07349, NA21102, NA19716, NA19468, NA19474, NA19211, NA20852, NA20510, NA18509, NA20786, NA12875, NA11843, NA20758, NA19116, NA19780, NA18872, NA17972, NA20502, NA19430, NA18670, NA12006, NA19463, NA18623, NA19063, NA21421, NA20277, NA18740, NA18144, NA19346, NA20350, NA21091, NA19676, NA18620, NA18997, NA18120, NA11830, NA21097, NA21383, NA21089, NA21577, NA11829, NA18153, NA19332, NA21519, NA21436, NA20531, NA21399, NA19795, NA18545, NA07029, NA21648, NA19393, NA21723, NA20805, NA19777, NA19057, NA18596, NA21386, NA12248, NA21741, NA18125, NA18870, NA19314, NA07357, NA21784, NA18967, NA19396, NA20796, NA19005, NA18944, NA19201, NA19382, NA20850, NA19762, NA20279, NA19902, NA20586, NA19119, NA19198, NA12891, NA21355, NA12348, NA21401, NA12283, NA19771, NA18161, NA19138, NA21103, NA18964, NA21370, NA20910, NA19760, NA21402, NA19404, NA11917, NA18970, NA19180, NA18874, NA21611, NA20819, NA06984, NA18977, NA21454, NA19137, NA19677, NA19385, NA21107, NA20869, NA20343, NA19901, NA21634, NA21442, NA19456, NA18975, NA18640, NA21320, NA21451, NA19200, NA11993, NA21106, NA18614, NA18140, NA11831, NA10847, NA18544, NA21480, NA12335, NA19437, NA21318, NA20879, NA10836, NA12343, NA20505, NA12003, NA10831, NA19152, NA18109, NA18956, NA18515, NA18529, NA20895, NA18151, NA18637, NA18132, NA20506, NA12376, NA20126, NA18503, NA18630, NA11839, NA10838, NA18757, NA21441, NA20337, NA19114, NA19774, NA19449, NA21141, NA21339, NA17967, NA10830, NA20538, NA12249, NA21678, NA19113, NA12827, NA18135, NA12817, NA10852, NA19095, NA18634, NA19436, NA21302, NA18608, NA19727, NA19094, NA21113, NA18914, NA21424, NA20773, NA20522, NA18542, NA12716, NA21719, NA18961, NA17962, NA21311, NA19240, NA20785, NA19439, NA18643, NA20516, NA20797, NA12874, NA19085, NA07055, NA18911, NA18594, NA20357, NA12708, NA20348, NA21580, NA19060, NA20334, NA18994, NA18500, NA17987, NA21312, NA19213, NA21389, NA19661, NA21509, NA19757, NA19755, NA18955, NA19775, NA19139, NA07000, NA21104, NA20363, NA18562, NA12776, NA18965, NA10865, NA21333
Known GenesHLA-B, MIR6891
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)esv2421676
Frequency
Sample Size1184
Observed Gain537
Observed Loss212
Observed Complex0
Frequencyn/a


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