A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421455



Internal ID7905217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16883108..16941001hg38UCSC Ensembl
Innerchr1:17209603..17267496hg19UCSC Ensembl
Innerchr1:17082190..17140083hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3857894
hg1957894
hg1857894
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5026401, essv5058624, essv5110272, essv5118820, essv5054086, essv5044592, essv5002555, essv5113637, essv5035199, essv5105240, essv5117045, essv5060560, essv5024608, essv5115933, essv5066867, essv5086014, essv5037567, essv5009440, essv5155101, essv5117452, essv5097100, essv5104217, essv5152392, essv5094810, essv5022740, essv5032170, essv5119346, essv5118129, essv5002508, essv5057110, essv5058264, essv5030042, essv5157006, essv5111824, essv5055998, essv5112366, essv5059015, essv5039821, essv5093717, essv5061190, essv5106778, essv5160566, essv5112549, essv5049281, essv5018074, essv5135969, essv5135370, essv5115772, essv5086531, essv5049633, essv5135695, essv5130303, essv5109088, essv5060943, essv5070821, essv5004735, essv5133688, essv5042763, essv5117284, essv5093849, essv5079342, essv5040865, essv5024108, essv5010067, essv5127846, essv5048138, essv5006519, essv5008648, essv5026223, essv5091443, essv5076471, essv5160258, essv5103759, essv5032089, essv5116817, essv5122596, essv5032316, essv5112594, essv5095836, essv5125769, essv5119277, essv5113019, essv5037942, essv5084910, essv5052108, essv5045095, essv5153097, essv5021138, essv5051979, essv5065233, essv5097008, essv5030022, essv5095894, essv5134163, essv5074418, essv5105480, essv5158627, essv5083511, essv5155913, essv5142022, essv5126792, essv5037077, essv5101917, essv5088695, essv5120412, essv5086298, essv5072037, essv5047270, essv5084421, essv5007779, essv5102812, essv5065387, essv5159643, essv5139461, essv5105512, essv5105069, essv5009278, essv5146549, essv5104936, essv5104802, essv5150465, essv5100613, essv5127120, essv5141584, essv5053913, essv5116575, essv5027238, essv5086692, essv5093740, essv5037760, essv5058603, essv5078913, essv5091035, essv5059805, essv5058107, essv5074168, essv5078646, essv5028158, essv5016117, essv5046441, essv5009191, essv5014810, essv5022891, essv5095692, essv5065850, essv5156813, essv5072329, essv5152984, essv5130484, essv5016821, essv5129083, essv5017332, essv5159889, essv5085316, essv5157953, essv5103379, essv5055154, essv5004444, essv5116384, essv5136646, essv5101502, essv5053715, essv5147413, essv5141602, essv5098315, essv5067874, essv5009826, essv5034553, essv5059549, essv5117269, essv5151985, essv5083100, essv5046536, essv5136215, essv5067082, essv5014326, essv5117492, essv5061673, essv5006467, essv5124285, essv5069410, essv5027457, essv5020252, essv5146659, essv5128068, essv5114338, essv5096769, essv5077016, essv5107685, essv5083755, essv5130731, essv5027419, essv5084521, essv5018177, essv5114680, essv5003156, essv5031356, essv5087014, essv5117997, essv5064968, essv5114344, essv5054679, essv5048297, essv5157199, essv5050835, essv5048475, essv5146488, essv5121813, essv5153278, essv5133460, essv5139551, essv5006951, essv5088822, essv5127759, essv5106798, essv5121490, essv5113257, essv5056267, essv5117088, essv5035516, essv5035906, essv5081176, essv5133268, essv5129387, essv5050841, essv5020012, essv5160797, essv5152363, essv5039517, essv5074466, essv5124020, essv5033120, essv5105808, essv5048396, essv5106448, essv5064258, essv5133749, essv5026844, essv5099230, essv5157311, essv5107641, essv5121078, essv5090637, essv5087089, essv5065791, essv5120827, essv5070319, essv5058411, essv5121456, essv5049316, essv5032435, essv5015485, essv5009199, essv5091949, essv5036548, essv5152014, essv5084304, essv5017794, essv5142986, essv5114395, essv5019386, essv5027231, essv5130948, essv5060130, essv5046748, essv5102014, essv5002754, essv5044837, essv5082199, essv5111040, essv5136108, essv5024133, essv5044987, essv5046246, essv5113041, essv5101859, essv5041980, essv5003922, essv5124993, essv5152822, essv5045942, essv5033107, essv5119957, essv5051143, essv5044898, essv5156413, essv5018172, essv5035947, essv5011869, essv5072970, essv5043100, essv5112506, essv5010456, essv5088248, essv5098226, essv5047460, essv5134482, essv5096160, essv5077558, essv5020880, essv5040328, essv5122188, essv5085115, essv5006486, essv5048632, essv5125345, essv5115989, essv5024519, essv5140684, essv5075006, essv5110707, essv5055429, essv5117717, essv5065965, essv5139328, essv5106194, essv5080701, essv5064272, essv5147022, essv5125312, essv5099962, essv5111478, essv5110538, essv5007838, essv5117115, essv5041169, essv5081290, essv5114019, essv5103778, essv5103771, essv5098055, essv5026732, essv5006182, essv5014507, essv5014180, essv5157375, essv5042625, essv5094689, essv5028085, essv5053255, essv5090798, essv5010821, essv5123038, essv5080865, essv5071647, essv5064110, essv5017890, essv5007786, essv5124305, essv5021628, essv5147835, essv5086951, essv5127738, essv5126598, essv5085246, essv5149295, essv5112080, essv5148185, essv5098012, essv5090302, essv5070553, essv5117231, essv5083014, essv5107317, essv5049144, essv5130594, essv5016348, essv5092744, essv5076373, essv5102550, essv5004269, essv5065875, essv5025494, essv5076075, essv5086003, essv5123097, essv5030657, essv5127109, essv5040406, essv5062068, essv5038258, essv5138727, essv5032473, essv5093178, essv5021911, essv5148716, essv5120699, essv5103826, essv5143110, essv5089028, essv5054318, essv5022653, essv5031423, essv5155086, essv5121588, essv5103961, essv5032469, essv5032838, essv5065940, essv5076127, essv5076924, essv5061722, essv5056674, essv5076785, essv5154202, essv5103286, essv5059367, essv5075151, essv5071444, essv5063859, essv5039612, essv5122630, essv5105050, essv5015446, essv5102184, essv5007503, essv5101825, essv5069245, essv5003158, essv5145356, essv5095375, essv5045959, essv5147986, essv5157609, essv5133752, essv5069059, essv5056144, essv5024780, essv5108682, essv5015131, essv5134811, essv5054766, essv5042364, essv5030772, essv5028561, essv5094424, essv5033589, essv5096642, essv5119844, essv5019727, essv5110435, essv5004154, essv5092709, essv5058801, essv5019668, essv5138642, essv5074373, essv5016066, essv5088681, essv5104436, essv5051004, essv5028804, essv5060841, essv5060750, essv5038858, essv5096519, essv5137317, essv5104214, essv5130675, essv5099069, essv5013009, essv5029931, essv5041587, essv5103855, essv5094626, essv5041804, essv5089873, essv5148378, essv5079526, essv5062523, essv5052461, essv5030592, essv5115978, essv5086846, essv5022534, essv5126766, essv5109355, essv5109258, essv5048039, essv5101186, essv5108762, essv5054193, essv5113457, essv5057556, essv5050331, essv5014551, essv5002576, essv5057255, essv5052144, essv5119235, essv5005544, essv5159156, essv5065490, essv5061003, essv5055362, essv5096648, essv5123887, essv5028001, essv5021954, essv5004579, essv5085767, essv5127811, essv5079599, essv5083861, essv5081157, essv5123426, essv5085965, essv5136324, essv5043721, essv5047389, essv5056651, essv5007467, essv5146134, essv5129159, essv5138662, essv5142856, essv5025020, essv5157378, essv5008077, essv5018347, essv5079911, essv5006490, essv5071772, essv5030388, essv5020555, essv5102792, essv5042300, essv5054059, essv5036337, essv5146796, essv5005847, essv5085695, essv5082429, essv5090959, essv5047562, essv5058964, essv5143147, essv5018174, essv5015676, essv5065977, essv5110120, essv5133655, essv5060546, essv5039437, essv5034838, essv5064028, essv5006744, essv5066540, essv5087882, essv5099314, essv5146556, essv5137608, essv5083668, essv5004468, essv5032830, essv5017379, essv5114037, essv5085304, essv5032394, essv5134308, essv5088408, essv5007504, essv5101695, essv5026459, essv5011659, essv5135041, essv5113280, essv5124332, essv5083720, essv5144065, essv5075932, essv5063794, essv5129041, essv5135966, essv5029426, essv5021274, essv5010139, essv5134195, essv5008007, essv5148048, essv5037484, essv5066756, essv5019753, essv5144538, essv5153944, essv5091264, essv5065477, essv5045249, essv5136757, essv5031308, essv5059149, essv5160036, essv5152305, essv5114781, essv5071124, essv5109059, essv5014694, essv5009673, essv5041786, essv5016687, essv5039355, essv5096754, essv5079108, essv5092490, essv5051893, essv5103322, essv5096269, essv5075339, essv5051017, essv5016691, essv5044467, essv5055587, essv5075073, essv5033382, essv5133449, essv5048413, essv5095343, essv5128315, essv5004085, essv5151782, essv5045814, essv5115530, essv5090795, essv5009030, essv5082948, essv5027775, essv5103479, essv5092788, essv5081263, essv5159525, essv5019407, essv5036913, essv5045172, essv5103415, essv5102689, essv5149250, essv5053053, essv5051588, essv5072067, essv5159082, essv5106741, essv5128868, essv5125865, essv5078545, essv5048230, essv5092468, essv5106735, essv5084771, essv5105910, essv5099089, essv5045712, essv5089140, essv5075589, essv5030908, essv5145666, essv5047898, essv5077378, essv5028380, essv5139716, essv5134440, essv5100525, essv5039926, essv5128838, essv5048257, essv5121681, essv5084328, essv5068855, essv5136376, essv5040787, essv5081843, essv5156750, essv5143686, essv5055357, essv5130528, essv5081270, essv5057234, essv5016121, essv5151178, essv5072259, essv5129917, essv5021931, essv5057016, essv5111201, essv5077283, essv5056874, essv5030387, essv5084952, essv5111876, essv5078659, essv5056899, essv5078527, essv5157797, essv5119616, essv5097885, essv5114280, essv5118836, essv5046634, essv5064954, essv5152854, essv5117383, essv5092816, essv5119538, essv5047004, essv5148464, essv5090873, essv5022960, essv5086652, essv5052392, essv5012630, essv5111803, essv5096758, essv5149086, essv5143625, essv5128349, essv5110166, essv5051739, essv5130918, essv5002999, essv5026768, essv5021994, essv5051919, essv5017352, essv5115299, essv5057304, essv5012897, essv5056012, essv5049622, essv5046901, essv5075234, essv5160920, essv5066838, essv5006977, essv5088205, essv5160425, essv5106431, essv5101426, essv5103126, essv5142604, essv5008791, essv5147205, essv5064371, essv5043975, essv5145900, essv5040075, essv5079291, essv5012961, essv5023433, essv5143890, essv5089240, essv5155596, essv5037850, essv5047731, essv5071800, essv5131593, essv5158666, essv5140347, essv5065761, essv5123076, essv5105478, essv5097921, essv5114829, essv5121988, essv5115411, essv5008849, essv5051479, essv5139651, essv5091838, essv5019224, essv5031413, essv5099226, essv5041206, essv5105600, essv5024993, essv5042829, essv5076597, essv5134265, essv5091243, essv5007344, essv5098036, essv5104607, essv5047555, essv5159099, essv5098676, essv5066068, essv5130485, essv5063672, essv5003961, essv5141036, essv5136415, essv5061412, essv5016987, essv5124242, essv5029256, essv5062035, essv5043135, essv5008000, essv5122841, essv5132756, essv5069984, essv5150313, essv5021982, essv5128437, essv5047063, essv5050900, essv5085572, essv5079835, essv5045122, essv5107567, essv5097936, essv5153800, essv5076493, essv5150991, essv5071290, essv5147504, essv5073684, essv5107122, essv5054964, essv5135140, essv5041116, essv5121029, essv5005212, essv5089151, essv5026386, essv5064411, essv5007479, essv5095772, essv5100179, essv5131352, essv5063353, essv5035883, essv5130759, essv5048317, essv5030913, essv5123196, essv5038223, essv5080108, essv5084379, essv5145780, essv5029838, essv5133764, essv5002204, essv5071137, essv5093977, essv5098068, essv5158152, essv5090458, essv5123032, essv5051338, essv5017049, essv5147309
SamplesNA20588, NA20529, NA20891, NA18947, NA19664, NA18647, NA20300, NA19399, NA18524, NA21099, NA12843, NA11920, NA11931, NA18979, NA18999, NA20512, NA12751, NA21489, NA21457, NA17990, NA18504, NA19377, NA21408, NA21738, NA21635, NA12832, NA18152, NA18633, NA20806, NA19067, NA20894, NA21776, NA12813, NA19127, NA19192, NA19379, NA21378, NA10835, NA19315, NA21359, NA19678, NA18107, NA19191, NA20756, NA20911, NA20795, NA18101, NA18993, NA18558, NA18960, NA18618, NA21297, NA18916, NA21479, NA11918, NA18582, NA19650, NA12762, NA17983, NA19384, NA20291, NA19079, NA18949, NA18136, NA20759, NA21574, NA19720, NA20775, NA17997, NA20812, NA18868, NA07014, NA18160, NA19172, NA10850, NA17993, NA19226, NA21523, NA19796, NA21357, NA18102, NA21387, NA21400, NA20757, NA18867, NA19789, NA18129, NA20755, NA20335, NA19921, NA18951, NA21307, NA20892, NA18605, NA12760, NA12489, NA21414, NA20800, NA21587, NA19120, NA19070, NA19056, NA21448, NA20297, NA21596, NA19175, NA18118, NA20521, NA19184, NA20810, NA19663, NA19176, NA20883, NA19751, NA19081, NA21631, NA18572, NA18948, NA21617, NA18981, NA12234, NA18548, NA18537, NA12818, NA19142, NA19084, NA21086, NA18875, NA12829, NA19181, NA11840, NA21295, NA19750, NA18122, NA18532, NA19059, NA19452, NA07345, NA19318, NA19132, NA12778, NA21309, NA19625, NA21316, NA21608, NA20319, NA18108, NA20851, NA20799, NA19440, NA19256, NA18517, NA21144, NA19712, NA19434, NA18564, NA12057, NA19140, NA18628, NA21528, NA20870, NA21336, NA19444, NA12873, NA18128, NA21768, NA19010, NA21718, NA19428, NA17970, NA21582, NA19083, NA18943, NA19360, NA21388, NA12763, NA18615, NA12347, NA19182, NA20888, NA19662, NA17995, NA20906, NA19328, NA19117, NA21435, NA19705, NA18631, NA19223, NA18134, NA19102, NA18873, NA19770, NA18138, NA21384, NA20826, NA19121, NA19129, NA19044, NA18624, NA21487, NA21491, NA19065, NA18612, NA19429, NA19074, NA18487, NA19431, NA18577, NA11832, NA20772, NA21403, NA18497, NA20284, NA20290, NA21686, NA18157, NA17969, NA20853, NA19186, NA19794, NA18924, NA19249, NA12814, NA18980, NA18166, NA21476, NA19122, NA18561, NA19704, NA18507, NA21597, NA18599, NA17975, NA20813, NA18641, NA18603, NA12045, NA17966, NA21717, NA21115, NA12865, NA20808, NA19836, NA19190, NA19098, NA18526, NA12400, NA12413, NA12341, NA19068, NA21371, NA18550, NA12812, NA18489, NA20890, NA21526, NA19723, NA18635, NA18860, NA19916, NA20769, NA18105, NA19352, NA19131, NA18942, NA19649, NA19653, NA19197, NA20540, NA19313, NA12287, NA19054, NA18498, NA20336, NA20541, NA19038, NA18749, NA12282, NA21447, NA19651, NA21382, NA21512, NA20349, NA19719, NA10853, NA19915, NA21525, NA18617, NA19471, NA18131, NA12889, NA21825, NA19002, NA21716, NA19189, NA18520, NA21601, NA21362, NA19721, NA19665, NA19209, NA12828, NA12375, NA18973, NA18158, NA18150, NA19451, NA18638, NA20129, NA12748, NA20818, NA19007, NA18106, NA19247, NA19657, NA20858, NA12753, NA12342, NA19077, NA10863, NA19347, NA12872, NA20809, NA18859, NA19748, NA19391, NA19327, NA18991, NA19982, NA21439, NA21118, NA21098, NA18910, NA18976, NA19097, NA18682, NA19983, NA19221, NA18133, NA07045, NA17977, NA19118, NA19000, NA07031, NA18518, NA18499, NA18946, NA19001, NA19772, NA20282, NA19225, NA06985, NA20828, NA19756, NA21142, NA20542, NA19659, NA21521, NA18576, NA21143, NA19685, NA19308, NA18978, NA19680, NA19183, NA06997, NA19834, NA18952, NA18543, NA20295, NA18559, NA12864, NA21527, NA07051, NA21616, NA21733, NA21517, NA21615, NA19310, NA10861, NA20803, NA19193, NA18869, NA21094, NA21513, NA20887, NA20341, NA20333, NA19759, NA19376, NA21379, NA21364, NA19248, NA19438, NA21404, NA20582, NA18987, NA12749, NA19828, NA19713, NA12830, NA18506, NA20807, NA21614, NA21486, NA21418, NA19726, NA17988, NA18972, NA21385, NA21303, NA18505, NA17981, NA19146, NA20322, NA20907, NA21440, NA19046, NA19153, NA19394, NA18745, NA12383, NA19258, NA20761, NA18139, NA12842, NA19703, NA21423, NA20766, NA12286, NA20508, NA19066, NA19204, NA18862, NA18508, NA12273, NA20783, NA18855, NA18935, NA21352, NA12344, NA20816, NA20752, NA17968, NA20873, NA20802, NA19350, NA18639, NA19359, NA18925, NA12340, NA20332, NA18124, NA18959, NA18616, NA21301, NA20517, NA21360, NA19443, NA20356, NA21522, NA20771, NA18510, NA12399, NA18602, NA18969, NA18627, NA21739, NA07346, NA18563, NA17974, NA19373, NA17986, NA17980, NA21520, NA18597, NA10846, NA10854, NA21473, NA19307, NA20774, NA18923, NA19686, NA19062, NA07347, NA19724, NA19457, NA18571, NA21493, NA21108, NA21353, NA20287, NA21381, NA21365, NA19904, NA21391, NA19130, NA18159, NA12275, NA19199, NA20518, NA21529, NA19123, NA21109, NA19215, NA19372, NA12044, NA11994, NA19235, NA18748, NA17996, NA18689, NA19128, NA18966, NA18990, NA18557, NA21689, NA19708, NA21344, NA18704, NA19027, NA20753, NA20301, NA18645, NA21415, NA17998, NA17976, NA18747, NA12752, NA21575, NA07022, NA19194, NA18117, NA21119, NA20885, NA19161, NA19086, NA18933, NA18694, NA18485, NA21300, NA12877, NA18579, NA18871, NA19103, NA18534, NA20358, NA21366, NA19208, NA19202, NA20525, NA18573, NA20866, NA19150, NA18626, NA20581, NA17999, NA19151, NA18156, NA18930, NA12056, NA18912, NA20856, NA18857, NA17965, NA19099, NA19761, NA18555, NA18963, NA12144, NA18974, NA18953, NA20872, NA18632, NA18146, NA06991, NA19309, NA19149, NA21576, NA20815, NA19072, NA21368, NA20527, NA19835, NA20792, NA20778, NA17989, NA21390, NA19324, NA19311, NA21361, NA18610, NA17982, NA18501, NA18484, NA07435, NA21090, NA10843, NA20871, NA20849, NA07349, NA21102, NA19468, NA19474, NA19211, NA19093, NA20510, NA18636, NA18509, NA20289, NA19185, NA20786, NA12875, NA18155, NA11843, NA20758, NA19080, NA18872, NA20502, NA19430, NA18957, NA21363, NA11892, NA19316, NA18968, NA18670, NA12890, NA12006, NA19463, NA18623, NA19063, NA12154, NA21421, NA18740, NA18144, NA20754, NA19346, NA19214, NA20350, NA21091, NA18620, NA18997, NA18120, NA19141, NA19222, NA21097, NA20543, NA21383, NA19203, NA21577, NA10845, NA18153, NA19914, NA19332, NA21436, NA21399, NA21092, NA18486, NA18545, NA21648, NA19393, NA21723, NA20805, NA19777, 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Known GenesCROCC
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)esv2421455
Frequency
Sample Size1184
Observed Gain850
Observed Loss0
Observed Complex0
Frequencyn/a


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