A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421657



Internal ID3031053
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32497116..32571961hg19UCSC Ensembl
Innerchr6:32605094..32679939hg18UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5048924, essv5069583, essv5121709, essv5087339, essv5070862, essv5068078, essv5143858, essv5069802, essv5110831, essv5089355, essv5023936, essv5019921, essv5060668, essv5148027, essv5046515, essv5018900, essv5083786, essv5128338, essv5129036, essv5076327, essv5023644, essv5031208, essv5139745, essv5092343, essv5061547, essv5029289, essv5123114, essv5059514, essv5100284, essv5053253, essv5012558, essv5148455, essv5076636, essv5118626, essv5140487, essv5016791, essv5117731, essv5013497, essv5058359, essv5033664, essv5154478, essv5159766, essv5111691, essv5084387, essv5018968, essv5059077, essv5153773, essv5132624, essv5073989, essv5011289, essv5093119, essv5093404, essv5089835, essv5024050, essv5107788, essv5115820, essv5098578, essv5040479, essv5120303, essv5116522, essv5129071, essv5098035, essv5048071, essv5021125, essv5065157, essv5003292, essv5038679, essv5142782, essv5093156, essv5127508, essv5020899, essv5111874, essv5006267, essv5046370, essv5009442, essv5018646, essv5116426, essv5134272, essv5127863, essv5028000, essv5093767, essv5097391, essv5008092, essv5073258, essv5066835, essv5008125, essv5061406, essv5151405, essv5002728, essv5111036, essv5144339, essv5145581, essv5005301, essv5120662, essv5055408, essv5107235, essv5109977, essv5080097, essv5138882, essv5120799, essv5002735, essv5137625, essv5067798, essv5073260, essv5077281, essv5152314, essv5041427, essv5121337, essv5002891, essv5002976, essv5078811, essv5048912, essv5043197, essv5064279, essv5101608, essv5128971, essv5093841, essv5026243, essv5018766, essv5043033, essv5151527, essv5117019, essv5050107, essv5036479, essv5022094, essv5117587, essv5103659, essv5004379, essv5144566, essv5138842, essv5074295, essv5127207, essv5049504, essv5109608, essv5144241, essv5038001, essv5058148, essv5017612, essv5082514, essv5108127, essv5023287, essv5155796, essv5072787, essv5040330, essv5061528, essv5146187, essv5141485, essv5006908, essv5022501, essv5015583, essv5135073, essv5067497, essv5018558, essv5039869, essv5043840, essv5054406, essv5119042, essv5070472, essv5012087, essv5039790, essv5114975, essv5135247, essv5158155, essv5116144, essv5015445, essv5063742, essv5020347, essv5101281, essv5024801, essv5030016, essv5112085, essv5154220, essv5005808, essv5071680, essv5151249, essv5034777, essv5003441, essv5135434, essv5123890, essv5052506, essv5101106, essv5115996, essv5051059, essv5014811, essv5038431, essv5050381, essv5111438, essv5132783, essv5154321, essv5001951, essv5076436, essv5014409, essv5051323, essv5072598, essv5112902, essv5082097, essv5054188, essv5025537, essv5140202, essv5117112, essv5050925, essv5014047, essv5140430, essv5019347, essv5051358, essv5045858, essv5144054, essv5003965, essv5119976, essv5144444, essv5010935, essv5096545, essv5123049, essv5119994, essv5041923, essv5110461, essv5095816, essv5106846, essv5012550, essv5125027, essv5052653, essv5129714, essv5058822, essv5125387, essv5137831, essv5064913, essv5151123, essv5059606, essv5064942, essv5074515, essv5122299, essv5160018, essv5099010, essv5030822, essv5023042, essv5069157, essv5142222, essv5050888, essv5158167, essv5039288, essv5139576, essv5086104, essv5077539, essv5079144, essv5110157, essv5019885, essv5121169, essv5023360, essv5090388, essv5153455, essv5040716, essv5159820, essv5045951, essv5141275, essv5018107, essv5146704, essv5117516, essv5094379, essv5044300, essv5045005, essv5117635, essv5139292, essv5018697, essv5031391, essv5031276, essv5141735, essv5146545, essv5148141, essv5125133, essv5148885, essv5099828, essv5008414, essv5126070, essv5109807, essv5033782, essv5061322, essv5029837, essv5138348, essv5158626, essv5049427, essv5030852, essv5106578, essv5113806, essv5063326, essv5101507, essv5023225, essv5012268, essv5048619, essv5097983, essv5009595, essv5134610, essv5041422, essv5065929, essv5039260, essv5144672, essv5064563, essv5110342, essv5124921, essv5034110, essv5103914, essv5049711, essv5057568, essv5056761, essv5115912, essv5113778, essv5048153, essv5006057, essv5075558, essv5145573, essv5034715, essv5039931, essv5071383, essv5105856, essv5057112, essv5005668, essv5016602, essv5026662, essv5062051, essv5070004, essv5020591, essv5012030, essv5127146, essv5091068, essv5073274, essv5057199, essv5150132, essv5090854, essv5140057, essv5130489, essv5112476, essv5142358, essv5134383, essv5147553, essv5095364, essv5058047, essv5069582, essv5136727, essv5131030, essv5053486, essv5008131, essv5048064, essv5053186, essv5141067, essv5047538, essv5080699, essv5161106, essv5064407, essv5037878, essv5108678, essv5058191, essv5006649, essv5065796, essv5154906, essv5101223, essv5148311, essv5150292, essv5066661, essv5116370, essv5139979, essv5066261, essv5159747, essv5137089, essv5126215, essv5029873, essv5055706, essv5063567, essv5096235, essv5033986, essv5138119, essv5030096, essv5023097, essv5071329, essv5100579, essv5031042, essv5155667, essv5129346, essv5018648, essv5086328, essv5147195, essv5066712, essv5117297, essv5056625, essv5088691, essv5037157, essv5109639, essv5013280, essv5035606, essv5049918, essv5115050, essv5147160, essv5099161, essv5119330, essv5140365, essv5013606, essv5097427, essv5052288, essv5156691, essv5102078, essv5016408, essv5039302, essv5093462, essv5140446, essv5150806, essv5046682, essv5106172, essv5153308, essv5097907, essv5120700, essv5143512, essv5009158, essv5066002, essv5094287, essv5104011, essv5001944, essv5067189, essv5006123, essv5015264, essv5007065, essv5155712, essv5034948, essv5043806, essv5105322, essv5104573, essv5056749, essv5040544, essv5120871, essv5002099, essv5152706, essv5135438, essv5024346, essv5090140, essv5012062, essv5140074, essv5051613, essv5152209, essv5019501, essv5093820, essv5016429, essv5120194, essv5121668, essv5041173, essv5154307, essv5095775, essv5076311, essv5114029, essv5011765, essv5113525, essv5030627, essv5120743, essv5139529, essv5031210, essv5137756, essv5049795, essv5094383, essv5073177, essv5103459, essv5121525, essv5130966, essv5131905, essv5031448, essv5129332, essv5096496, essv5138358, essv5080078, essv5009516, essv5145933, essv5097568, essv5087563, essv5124674, essv5084494, essv5159035, essv5086049, essv5041245, essv5087816, essv5083028, essv5055864, essv5099352, essv5119984, essv5101874, essv5156644, essv5081956, essv5123212, essv5057980, essv5127662, essv5159163, essv5045931, essv5005009, essv5113954, essv5072914, essv5074181, essv5082671, essv5139246, essv5136652, essv5101188, essv5026060, essv5016215, essv5040242, essv5087868, essv5106513, essv5124895, essv5010053, essv5028078, essv5048518, essv5108097, essv5154557, essv5061234, essv5041522, essv5014819, essv5107215, essv5036450, essv5076759, essv5069964, essv5060823, essv5154884, essv5009513, essv5151434, essv5002745, essv5151214, essv5051042, essv5085603, essv5089285, essv5003770, essv5134157, essv5104150, essv5094899, essv5009116, essv5154531, essv5007929, essv5122114, essv5030858, essv5055353, essv5068806, essv5094421, essv5028918, essv5137300, essv5001933, essv5033135, essv5037073, essv5067889, essv5082681, essv5049950, essv5006503, essv5150320, essv5054741, essv5151427, essv5079984, essv5080765, essv5111581, essv5076834, essv5017175, essv5150250, essv5096475, essv5139848, essv5052017, essv5107224, essv5119052, essv5047002, essv5150304, essv5118281, essv5137988, essv5094989, essv5039847, essv5119632, essv5055940, essv5122575, essv5042853, essv5075698, essv5151723, essv5108233, essv5074662, essv5081625, essv5111953, essv5072680, essv5148370, essv5079787, essv5066370, essv5079683, essv5101316, essv5018971, essv5119592, essv5050469, essv5017635, essv5159305, essv5049430, essv5096650, essv5039891, essv5104983, essv5100232, essv5078622, essv5086352, essv5075441, essv5051292, essv5117091, essv5122208, essv5035899, essv5026568, essv5151192, essv5010646, essv5024770, essv5112891, essv5056659, essv5146460, essv5093360, essv5009580, essv5063998, essv5137304, essv5118391, essv5070314, essv5103824, essv5026823, essv5100812, essv5004397, essv5019688, essv5090228, essv5127885, essv5117200, essv5146028, essv5149163, essv5097557, essv5145555, essv5106486, essv5051449, essv5141870, essv5115375, essv5053999, essv5111795, essv5126941, essv5010091, essv5006314, essv5021390, essv5017753, essv5040473, essv5142916, essv5159422, essv5159410, essv5134997, essv5051355, essv5130481, essv5037714, essv5128301, essv5017385, essv5005020, essv5046003, essv5115358, essv5065051, essv5091512, essv5068409, essv5061250, essv5067994, essv5046117, essv5068437, essv5152524, essv5088464, essv5044721, essv5091427, essv5113603, essv5004989, essv5145582, essv5056253, essv5073480, essv5085688, essv5089414, essv5127419, essv5102557, essv5126875, essv5036291, essv5094840, essv5117970, essv5098728, essv5108594, essv5108597, essv5043321, essv5119878, essv5102025, essv5121911, essv5079666, essv5068500, essv5135963, essv5094310, essv5043479, essv5078914, essv5094153, essv5123342, essv5144201, essv5046914, essv5070223, essv5094939, essv5161034, essv5142716, essv5157358, essv5092246, essv5117420, essv5130311, essv5149646, essv5111997, essv5076251, essv5128387, essv5031399, essv5054888, essv5078980, essv5003080, essv5057231, essv5050934, essv5035228, essv5073178, essv5116759, essv5005355, essv5079889, essv5145499, essv5139543, essv5056338, essv5134936, essv5145957, essv5007185, essv5006065, essv5091889, essv5128543, essv5034398, essv5030652, essv5005990, essv5101527, essv5017554, essv5033482, essv5112714, essv5072350, essv5094695, essv5009133, essv5025016, essv5078120, essv5012908, essv5095102, essv5068949, essv5031381, essv5005287, essv5082365, essv5113931, essv5014136, essv5044610, essv5064176, essv5145686, essv5003625, essv5065513, essv5051876, essv5043681, essv5147522, essv5143870, essv5112195, essv5135054, essv5060676, essv5160874, essv5128073, essv5027321, essv5148456, essv5011517, essv5055461, essv5158056, essv5011809, essv5028931, essv5130487, essv5022680, essv5114042, essv5078803, essv5029519, essv5068725, essv5079494, essv5064117, essv5069343, essv5145262, essv5152842, essv5038251, essv5115823, essv5014705, essv5125786, essv5088622, essv5072252, essv5125898, essv5143612, essv5027478, essv5063294, essv5116980, essv5015101, essv5097033, essv5056233, essv5111586, essv5059243, essv5132487, essv5067097, essv5150565, essv5103162, essv5069626, essv5089751, essv5039083, essv5006151, essv5100723, essv5155320, essv5157576, essv5054621, essv5042363, essv5056865, essv5015215, essv5044474, essv5108447, essv5110271, essv5032352, essv5069329, essv5065317, essv5101040, essv5068136, essv5122577, essv5011282, essv5077664, essv5091379, essv5091193, essv5015812, essv5048874, essv5024593, essv5042240, essv5130231, essv5034052, essv5066194, essv5053100, essv5136571, essv5057933, essv5069464, essv5043193, essv5039429, essv5123019, essv5112925, essv5038322, essv5019733, essv5149251, essv5061283, essv5077224, essv5008016, essv5112864, essv5029917, essv5085138, essv5019011, essv5083428, essv5086903, essv5160362, essv5028177, essv5065430, essv5055815, essv5143144, essv5092612, essv5084413, essv5040162, essv5076977, essv5048315, essv5115024, essv5135340, essv5047548, essv5096378, essv5087103, essv5074984, essv5022287, essv5047635, essv5104724, essv5153395, essv5120679, essv5042530, essv5151613, essv5108967, essv5059866, essv5027411, essv5113236, essv5153917, essv5050753, essv5071792, essv5002098, essv5061563, essv5128293, essv5081935, essv5019156, essv5145575, essv5150215, essv5131697, essv5103422, essv5112335, essv5076355, essv5068542, essv5102031, essv5047149, essv5126193, essv5118448, essv5064551, essv5004370, essv5105984, essv5088216, essv5094107, essv5144755, essv5160086, essv5053058, essv5124453, essv5132185, essv5002943, essv5136951, essv5067613, essv5127618, essv5014535, essv5149008, essv5136327, essv5055994, essv5035116, essv5005678, essv5124779, essv5042691, essv5118635, essv5115386, essv5121032, essv5127264, essv5155361, essv5086548, essv5010142, essv5047103, essv5107453, essv5113186, essv5145482, essv5105607, essv5129028, essv5026684, essv5044483, essv5026666, essv5064087, essv5092609, essv5069955, essv5073045, essv5156676, essv5003797, essv5083656, essv5155136, essv5085300, essv5061644, essv5020093, essv5018806, essv5153080, essv5109473, essv5147928, essv5156876, essv5022917, essv5010377, essv5115210, essv5091387, essv5076728, essv5084807, essv5081173, essv5051104, essv5050194, essv5020893, essv5100978, essv5151421, essv5054752, essv5096257, essv5081656, essv5129372, essv5106641, essv5017962, essv5107065, essv5153505, essv5152776, essv5045949, essv5087010, essv5124602, essv5074197, essv5080615, essv5029078, essv5078715, essv5011053, essv5071246, essv5140109, essv5014861, essv5133537, essv5160652, essv5048118, essv5006952, essv5104479, essv5142847, essv5036806, essv5068710, essv5103139, essv5095303, essv5008158, essv5029901, essv5024200, essv5039620, essv5017959, essv5071562, essv5079487, essv5109216, essv5015674, essv5007841, essv5128371, essv5041223, essv5135290, essv5144020, essv5035053, essv5049320, essv5011609, essv5005565, essv5016508, essv5141557, essv5128895, essv5075522, essv5136786, essv5159476, essv5052479, essv5081583, essv5112217, essv5084701, essv5045041, essv5078150, essv5134113, essv5101888, essv5109167, essv5120522, essv5103336, essv5042855, essv5020861, essv5156543, essv5134450, essv5021338, essv5014794, essv5053030, essv5144989, essv5133141, essv5072607, essv5074122, essv5110613, essv5029396, essv5055714, essv5056715, essv5125160, essv5142849, essv5014569, essv5061463, essv5139623, essv5056849, essv5105347, essv5125628, essv5125450, essv5138169, essv5037507, essv5046102, essv5093264, essv5110396, essv5016914, essv5035975, essv5160233, essv5084307, essv5019676, essv5137445, essv5033921, essv5045933, essv5072922, essv5112030, essv5119517, essv5131428, essv5118344, essv5010150, essv5128469, essv5020418, essv5098474, essv5140648, essv5037856, essv5109774, essv5090979, essv5013426, essv5010672, essv5021572, essv5124182, essv5067085, essv5002132, essv5160181, essv5069312, essv5114841, essv5006617, essv5134156, essv5066963, essv5049522, essv5080262
SamplesNA10859, NA18503, NA19146, NA19207, NA18870, NA20876, NA21723, NA19757, NA18914, NA18871, NA19665, NA20907, NA12286, NA07349, NA21320, NA21613, NA18757, NA21447, NA12347, NA20796, NA19311, NA11918, NA19469, NA20346, NA12264, NA19223, NA12707, NA19334, NA19788, NA18953, NA18517, NA20292, NA20894, NA21415, NA19775, NA19144, NA18546, NA07348, NA10853, NA18507, NA19760, NA10855, NA21357, NA21425, NA20805, NA11891, NA19257, NA20845, NA21312, NA20861, NA21361, NA18156, NA19701, NA19236, NA21611, NA12766, NA18505, NA19472, NA19151, NA19208, NA20803, NA20853, NA18862, NA21384, NA18868, NA18139, NA19140, NA19028, NA20505, NA20856, NA19211, NA19239, NA19650, NA20875, NA21111, NA18627, NA11839, NA11840, NA19076, NA18114, NA18154, NA19199, NA19309, NA18150, NA18635, NA19675, NA19197, NA19443, NA18623, NA19471, NA19107, NA19444, NA20530, NA18990, NA18143, NA18636, NA18592, NA19083, NA19088, NA19096, NA21363, NA12273, NA12761, NA18956, NA19429, NA21513, NA18959, NA18609, NA21116, NA21119, NA21647, NA11843, NA17977, NA19985, NA11831, NA18485, NA12400, NA18637, NA20520, NA18593, NA19181, NA21408, NA21451, NA19457, NA12234, NA19086, NA21399, NA12144, NA20847, NA19324, NA19190, NA21491, NA19000, NA21442, NA19721, NA18144, NA19360, NA19725, NA20128, NA18149, NA18640, NA18696, NA18515, NA19189, NA17966, NA19372, NA18633, NA20291, NA20760, NA21316, NA12778, NA12348, NA12877, NA19716, NA21339, NA20884, NA21107, NA12275, NA18510, NA18674, NA21379, NA19215, NA21689, NA18106, NA19002, NA19154, NA21382, NA19139, NA17967, NA21303, NA21485, NA19763, NA11892, NA18925, NA19001, NA20290, NA10836, NA20766, NA18136, NA18910, NA21092, NA19711, NA18940, NA21101, NA18619, NA18987, NA12890, NA12146, NA19921, NA21378, NA19376, NA21632, NA21682, NA20911, NA19035, NA19391, NA20276, NA20302, NA06991, NA18740, NA19128, NA12812, NA18857, NA19009, NA17975, NA21509, NA19116, NA18631, NA21360, NA20287, NA19097, NA19132, NA21383, NA19755, NA19818, NA07022, NA21086, NA19778, NA21089, NA21362, NA18548, 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Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
Method
AnalysisThese sample-specific calls were then collapsed into discrete CNP segments. For our subsequent analysis, we focused on variation that was observed in at least 1% of the samples. In order to refine the CNP breakpoint definitions using many samples simultaneously, we developed an approach utilizing the correlation structure of the probe-intensity data across samples. First, we agglomeratively clustered overlapping CNP calls to identify a series of discrete regions for more-detailed follow-up. We then analyzed each such region (together with 100 kb of flanking sequence on each side) individually. Each region involved a set of samples with putative CNPs
PlatformAffymetrix Genome-Wide Human SNP 6.0 Array + Illumina Human1Mv1 DNA Analysis BeadChip
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421657
Frequency
Sample Size1184
Observed Gain0
Observed Loss1081
Observed Complex0
Frequencyn/a


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