A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422111



Internal ID3031424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:32454275..32571961hg19UCSC Ensembl
Innerchr6:32562253..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 Variantsessv5142853, essv5075373, essv5077752, essv5146267, essv5146111, essv5159137, essv5135570, essv5157639, essv5020766, essv5151908, essv5074607, essv5050909, essv5145652, essv5052354, essv5116013, essv5150597, essv5107524, essv5052918, essv5078718, essv5030058, essv5011608, essv5004764, essv5127252, essv5054347, essv5067447, essv5122266, essv5071065, essv5159544, essv5118665, essv5027367, essv5038487, essv5080763, essv5109626, essv5129799, essv5019416, essv5036517, essv5138518, essv5017921, essv5095859, essv5088588, essv5010304, essv5092353, essv5123383, essv5111293, essv5130475, essv5062568, essv5036906, essv5157319, essv5111243, essv5128834, essv5106261, essv5151700, essv5158811, essv5042738, essv5133572, essv5011538, essv5085732, essv5020803, essv5014282, essv5075252, essv5055895, essv5043388, essv5027491, essv5009723, essv5143592, essv5057640, essv5143063, essv5047220, essv5086299, essv5101449, essv5105513, essv5047941, essv5012247, essv5117857, essv5145507, essv5051784, essv5152723, essv5160517, essv5037413, essv5059462, essv5091940, essv5145051, essv5041716, essv5044334, essv5009365, essv5055274, essv5073743, essv5030420, essv5088170, essv5145560, essv5116986, essv5079278, essv5038488, essv5060845, essv5087560, essv5081699, essv5009144, essv5047359, essv5158908, essv5070825, essv5123976, essv5156423, essv5141139, essv5149393, essv5107472, essv5110029, essv5151284, essv5051123, essv5023810, essv5085760, essv5056442, essv5048198, essv5007645, essv5014435, essv5116359, essv5079367, essv5043281, essv5027745, essv5110770, essv5025581, essv5084541, essv5123463, essv5104608, essv5100905, essv5148154, essv5112729, essv5077217, essv5149817, essv5080371, essv5036383, essv5118481, essv5071115, essv5086550, essv5148447, essv5084773, essv5132820, essv5053111, essv5062954, essv5034113, essv5068109, essv5022366, essv5066365, essv5057646, essv5004586, essv5049865, essv5128064, essv5142179, essv5145467, essv5026392, essv5146625, essv5063034, essv5100733, essv5141273, essv5127847, essv5053817, essv5140997, essv5139181, essv5011611, essv5073032, essv5068410, essv5083738, essv5084842, essv5107664, essv5023972, essv5116665, essv5083090, essv5003553, essv5082023, essv5115563, essv5013083, essv5130012, essv5079401, essv5027283, essv5125765, essv5093210, essv5028937, essv5065562, essv5152454, essv5083023, essv5112646, essv5117242, essv5144784, essv5093956, essv5143822, essv5029139, essv5047829, essv5075974, essv5069867, essv5143588, essv5069289, essv5081056, essv5146976, essv5136921, essv5019196, essv5128402, essv5046265, essv5136763, essv5132320, essv5146468, essv5096537, essv5014680, essv5062588, essv5121793, essv5052804, essv5084078, essv5095131, essv5068967, essv5106681, essv5088764, essv5078151, essv5037322, essv5139029, essv5002593, essv5045759, essv5078752, essv5049189, essv5007002, essv5152444, essv5052877, essv5158674, essv5153947, essv5069352, essv5157121, essv5139779, essv5028164, essv5111900, essv5124445, essv5038790, essv5144481, essv5038690, essv5051526, essv5086324, essv5007268, essv5043496, essv5003426, essv5125069, essv5086598, essv5148970, essv5038877, essv5013008, essv5083637, essv5115136, essv5047507, essv5053923, essv5019461, essv5109372, essv5015886, essv5147023, essv5045401, essv5042356, essv5018947, essv5093499, essv5093993, essv5068009, essv5103619, essv5069256, essv5007873, essv5034766, essv5077036, essv5153592, essv5141026, essv5095144, essv5033728, essv5106263, essv5072993, essv5117862, essv5079145, essv5141597, essv5123859, essv5133068, essv5015102, essv5069372, essv5159426, essv5112294, essv5116683, essv5048255, essv5026073, essv5123106, essv5038482, essv5051915, essv5019303, essv5074499, essv5049741, essv5111777, essv5019085, essv5009150, essv5071022, essv5117719, essv5129895, essv5024999, essv5142527, essv5066229, essv5065211, essv5070060, essv5028789, essv5041070, essv5028977, essv5053435, essv5160394, essv5085494, essv5035669, essv5081351, essv5130234, essv5152754, essv5123889, essv5078657, essv5015881, essv5086266, essv5089228, essv5035222, essv5110057, essv5041806, essv5156809, essv5002762, essv5156512, essv5092010, essv5004388, essv5007036, essv5071438, essv5146077, essv5126125, essv5015997, essv5071861, essv5151303, essv5025275, essv5129109, essv5088540, essv5050826, essv5056437, essv5134583, essv5068797, essv5094942, essv5060690, essv5047708, essv5080403, essv5056513, essv5004306, essv5083193, essv5069675, essv5071044, essv5140142, essv5157597, essv5086894, essv5010749, essv5146523, essv5138742, essv5077757, essv5090767, essv5151750, essv5091258, essv5071069, essv5047134, essv5124106, essv5021062, essv5027272, essv5055394, essv5126232, essv5117463, essv5007749, essv5111776, essv5055688, essv5137075, essv5071790, essv5148182, essv5076626, essv5096365, essv5026904, essv5132381, essv5032818, essv5005238, essv5110415, essv5148542, essv5009725, essv5065810, essv5048662, essv5141796, essv5004616, essv5006920, essv5084522, essv5016342, essv5116409, essv5132376, essv5160197, essv5076812, essv5130387, essv5061910, essv5043553, essv5086893, essv5058746, essv5117038, essv5086632, essv5018326, essv5106464, essv5047768, essv5086369, essv5118488, essv5130473, essv5106103, essv5068027, essv5028710, essv5076995, essv5097940, essv5036826, essv5150076, essv5136044, essv5100476, essv5009902, essv5095661, essv5117207, essv5016977, essv5124051, essv5139829, essv5131932, essv5003861, essv5090033, essv5052743, essv5035046, essv5011549, essv5090165, essv5155863, essv5040099, essv5067350, essv5070540, essv5075953, essv5142161, essv5085611, essv5005971, essv5140111, essv5094210, essv5121258, essv5118252, essv5062632, essv5154291, essv5079491, essv5089156, essv5035656, essv5127512, essv5057211, essv5150977, essv5112415, essv5085855, essv5063725, essv5011334, essv5125904, essv5034986, essv5149756, essv5064883, essv5090937, essv5142173, essv5065364, essv5028906, essv5075865, essv5086936, essv5121322, essv5141239, essv5045405, essv5042564, essv5063878, essv5058940, essv5044351, essv5016108, essv5072730, essv5158396, essv5133038, essv5118378, essv5037088, essv5138195, essv5037847, essv5117345, essv5045887, essv5092174, essv5097975, essv5060105, essv5113087, essv5108426, essv5112236, essv5022395, essv5081878, essv5119009, essv5095763, essv5014647, essv5074209, essv5155188, essv5101596, essv5141747, essv5124347, essv5049262, essv5117658, essv5131630, essv5059082, essv5009259, essv5137456, essv5161149, essv5136053, essv5118727, essv5038026, essv5023994, essv5050936, essv5106596, essv5095475, essv5008829, essv5026603, essv5129617, essv5120628, essv5021018, essv5088533, essv5105475, essv5070905, essv5033121, essv5061724, essv5071448, essv5059122, essv5075071, essv5021853, essv5017665, essv5012940, essv5008442, essv5050213, essv5010254, essv5141536, essv5027636, essv5059885, essv5077250, essv5157627, essv5158650, essv5151492, essv5016010, essv5072616, essv5083667, essv5153958, essv5067581, essv5002572, essv5113048, essv5142015, essv5136421, essv5128819, essv5104170, essv5087473, essv5125104, essv5142064, essv5056316, essv5120660, essv5139811, essv5108964, essv5067412, essv5138042, essv5062685, essv5140545, essv5050556, essv5108091, essv5068681, essv5038207, essv5064133, essv5144828, essv5082002, essv5069941, essv5130296, essv5006105, essv5006971, essv5120894, essv5081450, essv5043099, essv5158191, essv5015373, essv5118829, essv5043262, essv5127641, essv5115326, essv5104071, essv5051302, essv5094791, essv5011240, essv5098101, essv5088858, essv5033378, essv5010652, essv5127580, essv5111782, essv5158642, essv5005150, essv5058171, essv5099254, essv5038888, essv5125071, essv5076054, essv5073273, essv5159062, essv5098792, essv5064915, essv5063342, essv5010166, essv5124923, essv5082572, essv5122525, essv5080254, essv5122156, essv5116270, essv5140484, essv5007765, essv5076988, essv5065078, essv5046301, essv5006032, essv5090385, essv5076158, essv5117585, essv5155051, essv5013491, essv5050396, essv5003549, essv5057756, essv5010866, essv5056383, essv5116467, essv5067087, essv5097511, essv5033510, essv5053447, essv5052027, essv5150381, essv5077473, essv5157643, essv5125470, essv5124081, essv5054173, essv5099061, essv5141080, essv5121962, essv5029716, essv5023596, essv5068704, essv5005816, essv5107184, essv5139215, essv5093602, essv5056917, essv5108907, essv5054013, essv5148171, essv5100739, essv5062162, essv5074973, essv5126527, essv5102617, essv5101508, essv5055493, essv5103381, essv5151323, essv5079064, essv5083815, essv5021591, essv5085899, essv5129284, essv5116868, essv5115651, essv5066441, essv5007564, essv5100172, essv5073846, essv5160612, essv5157255, essv5119814, essv5108993, essv5043919, essv5092748, essv5122477, essv5141276, essv5068995, essv5047925, essv5094403, essv5129310, essv5142288, essv5102097, essv5002446, essv5007746, essv5120950, essv5097426, essv5147343, essv5045810, essv5052601, essv5089207, essv5121020, essv5111566, essv5077465, essv5116766, essv5015065, essv5038605, essv5135873, essv5096488, essv5111118, essv5159150, essv5059822, essv5069507, essv5115558, essv5130946, essv5006020, essv5065652, essv5022546, essv5030626, essv5038348, essv5020319, essv5006604, essv5026056, essv5036762, essv5023185, essv5103889, essv5106408, essv5120112, essv5148358, essv5027738, essv5120668, essv5120762, essv5015961, essv5130534, essv5103929, essv5010215, essv5031152, essv5101306, essv5121721, essv5061108, essv5150350, essv5096986, essv5124489, essv5041065, essv5054152, essv5058540, essv5080310, essv5032102, essv5113017, essv5146260, essv5002070, essv5160256, essv5057503, essv5087902, essv5139107, essv5122760, essv5119698, essv5029073, essv5021731, essv5142877, essv5051077, essv5080521, essv5014046, essv5006305, essv5063597, essv5137015, essv5126423, essv5064593, essv5040414, essv5014900, essv5145461, essv5047914, essv5100641, essv5041140, essv5119430, essv5053112, essv5153084, essv5129660, essv5117316, essv5144494, essv5147254, essv5100508, essv5095478, essv5128331, essv5060865, essv5129977, essv5011310, essv5109499, essv5156083, essv5076515, essv5159414, essv5043627, essv5144136, essv5033229, essv5022298, essv5154700, essv5129772, essv5135276, essv5128252, essv5102239, essv5137510, essv5061930, essv5129738, essv5070234, essv5005915, essv5063763, essv5043506, essv5021432, essv5103117, essv5143810, essv5014724, essv5108077, essv5069965, essv5072472, essv5158868, essv5025837, essv5149076, essv5066745, essv5041328, essv5104169, essv5015888, essv5017426, essv5138728, essv5049643, essv5036615, essv5067211, essv5104438, essv5012737, essv5100329, essv5100037, essv5115784, essv5074666, essv5080729, essv5076164, essv5035384, essv5014475, essv5039505, essv5057362, essv5132671, essv5149920, essv5065676, essv5056054, essv5031820, essv5107348, essv5126473, essv5065483, essv5158422, essv5013444, essv5020391, essv5039094, essv5133875, essv5089043, essv5144294, essv5045514, essv5023569, essv5113276, essv5086696, essv5006940, essv5133657, essv5077816, essv5078491, essv5040637, essv5064016, essv5135000, essv5103346, essv5121756, essv5111860, essv5061484, essv5129597, essv5064867, essv5131246, essv5118839, essv5078138, essv5150657, essv5133288, essv5027451, essv5042490, essv5026126, essv5048708, essv5094015, essv5010268, essv5140626, essv5026160, essv5003109, essv5114211, essv5018053, essv5129802, essv5121837, essv5088844, essv5088795, essv5072591, essv5130154, essv5092213, essv5154219, essv5061693, essv5054810, essv5067206, essv5117937, essv5079658, essv5158432, essv5144165, essv5073657, essv5128901, essv5110061, essv5116297, essv5109829, essv5036412, essv5118320, essv5156909, essv5020340, essv5002006, essv5097890, essv5122686, essv5021505, essv5118587, essv5152350, essv5096525, essv5151775, essv5145449, essv5117224, essv5101217, essv5150379, essv5053104, essv5003478, essv5022973, essv5018991, essv5058670, essv5013383, essv5138699, essv5107712, essv5149539, essv5037998, essv5108463, essv5075361, essv5040513, essv5026986, essv5016057, essv5073766, essv5090532, essv5017828, essv5125669, essv5092601, essv5086193, essv5062100, essv5076898, essv5133931, essv5134071, essv5108036, essv5027680, essv5004198, essv5041063, essv5087991, essv5094630, essv5092435, essv5079778, essv5092694, essv5119199, essv5002927, essv5007154, essv5081398, essv5024461, essv5054833, essv5098281, essv5042751, essv5029482, essv5020234, essv5035922, essv5041521, essv5117359, essv5074697, essv5005602, essv5091986, essv5084776, essv5128702, essv5031679, essv5122747, essv5085544, essv5138436, essv5060095, essv5003351, essv5071144, essv5006261, essv5077207, essv5017088, essv5151465, essv5064423, essv5159051, essv5156473, essv5036998, essv5076446, essv5097839, essv5116250, essv5153601, essv5085255, essv5037182, essv5097773, essv5132582, essv5083449, essv5085873, essv5104925, essv5062768, essv5093042, essv5066646, essv5056713, essv5160640, essv5014674, essv5045045, essv5014879, essv5074396, essv5107275, essv5147005, essv5138808, essv5033902, essv5101157, essv5152471, essv5035931, essv5104560, essv5154631, essv5035580, essv5087023, essv5011349, essv5092534, essv5055900, essv5087942, essv5149230, essv5050705, essv5047106, essv5111153, essv5023509, essv5115075, essv5129227, essv5016438, essv5142209, essv5092244, essv5100684, essv5121198, essv5093183, essv5087878, essv5022795, essv5120195, essv5126946, essv5036648, essv5068449, essv5083757, essv5122706, essv5046671, essv5147583, essv5006722, essv5108763, essv5079792, essv5160052, essv5090287, essv5020274, essv5070984, essv5120362, essv5159978, essv5148259, essv5155793, essv5159191, essv5075904, essv5067528, essv5125011, essv5075738, essv5083466, essv5151971, essv5071059, essv5097769, essv5130023, essv5003470, essv5144636, essv5110894, essv5064952, essv5069677, essv5103239, essv5008859, essv5132602, essv5089249, essv5110977, essv5092749, essv5080052, essv5074831, essv5118824, essv5128272, essv5045434, essv5117021, essv5096108, essv5010786, essv5079484, essv5129819, essv5035444, essv5008075, essv5017369, essv5138062, essv5097849, essv5047082, essv5043968, essv5054864, essv5107597, essv5124450, essv5038902, essv5151931, essv5023449, essv5051158, essv5025169, essv5102466, essv5001924, essv5099471, essv5031380, essv5066207, essv5073393, essv5014098, essv5122739, essv5082047, essv5152484, essv5099503, essv5134712, essv5122075, essv5009771, essv5087401, essv5024731, essv5051397, essv5103506, essv5134377, essv5046214, essv5157592, essv5105561, essv5032304, essv5073304, essv5151874, essv5139013, essv5001939, essv5027685, essv5078973, essv5053749, essv5009398, essv5039013, essv5137118, essv5068781, essv5114030, essv5132192, essv5072898, essv5058775, essv5117900, essv5071354, essv5008102, essv5023990, essv5121028, essv5064254, essv5150819, essv5038050, essv5019190, essv5078250, essv5094934, essv5086186, essv5107041, essv5080099, essv5118994, essv5142515, essv5054001, essv5017422, essv5041625, essv5108459, essv5027904, essv5123108, essv5072954, essv5024316, essv5019199, essv5117195
SamplesNA10859, NA18503, NA19146, NA19207, NA18870, NA20876, NA21723, NA21512, NA19757, NA18914, NA18871, NA19665, NA20907, NA12286, NA07349, NA21320, NA21613, NA18757, NA21447, NA12347, NA20544, NA20796, NA19311, NA11918, NA19469, NA20346, NA12264, NA19223, NA12707, NA19334, NA19788, NA18953, NA18517, NA18546, NA10853, NA21357, NA20805, NA20845, NA18156, NA19701, NA19180, NA19236, NA21611, NA18505, NA19472, NA19151, NA19208, NA20803, NA20853, NA18862, NA18139, NA20856, NA12763, NA19650, NA20875, NA21111, NA11839, NA19076, NA18114, NA18154, NA18150, NA18635, NA18623, NA20530, NA18990, NA18636, NA18592, NA19088, NA21363, NA12273, NA18956, NA19429, NA21513, NA18609, NA21116, NA21119, NA21647, NA11843, NA17977, NA19985, NA11831, NA18485, NA11894, NA12400, NA18637, NA20520, NA18593, NA19181, NA21408, NA21451, NA19457, 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, NA20291, NA20760, NA21316, NA12778, NA12348, NA12877, NA19716, NA21339, NA21107, NA12275, NA18510, NA18674, NA21379, NA19215, NA21689, NA18106, NA19002, NA19154, NA21382, NA19139, NA17967, NA21303, NA21485, NA19763, NA11892, NA18925, NA19001, NA20290, NA20542, NA10836, NA20766, NA18136, NA18910, NA21092, NA19711, NA18940, NA21101, NA18987, NA12890, NA12146, NA19921, NA21378, NA19376, NA21632, NA19794, NA21682, NA20911, NA19035, NA19391, NA19723, NA20276, NA20302, NA06991, NA18740, NA19128, NA12812, NA18857, NA19009, NA20850, NA17975, NA21509, NA19116, NA18631, NA20337, NA21360, NA20289, NA20287, NA19097, NA19132, NA21383, NA19755, NA19818, NA07022, NA21086, NA19778, NA21089, NA21362, NA18548, NA11830, NA20810, NA17976, NA18944, NA18689, NA21436, NA20869, NA18924, NA19198, NA18610, NA20758, NA21597, NA20872, NA12045, NA10840, NA11829, NA19130, NA19240, NA21719, NA19350, NA21355, NA20804, NA18555, NA19385, NA21573, NA19779, NA19202, 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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)esv2422111
Frequency
Sample Size1184
Observed Gain0
Observed Loss1148
Observed Complex0
Frequencyn/a


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