A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422126



Internal ID7905888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:29883666..29897941hg38UCSC Ensembl
Innerchr6:29851443..29865718hg19UCSC Ensembl
Innerchr6:29959422..29973697hg18UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg3814276
hg1914276
hg1814276
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5115653, essv5098661, essv5078944, essv5149678, essv5139373, essv5138500, essv5144129, essv5031084, essv5109456, essv5015147, essv5143468, essv5047005, essv5104837, essv5027856, essv5158852, essv5066611, essv5071282, essv5087385, essv5134609, essv5028685, essv5124703, essv5025852, essv5064641, essv5129908, essv5064863, essv5070051, essv5086398, essv5132135, essv5151973, essv5123752, essv5154190, essv5102102, essv5038385, essv5145689, essv5156544, essv5055440, essv5069645, essv5091845, essv5061260, essv5128138, essv5144999, essv5031657, essv5096857, essv5017992, essv5025047, essv5005907, essv5112896, essv5029538, essv5147623, essv5013646, essv5034700, essv5020998, essv5015087, essv5078513, essv5020779, essv5088981, essv5004412, essv5047272, essv5120117, essv5058738, essv5159622, essv5046842, essv5095814, essv5108445, essv5148614, essv5006736, essv5089745, essv5144164, essv5120513, essv5003020, essv5075780, essv5082717, essv5039111, essv5023691, essv5038546, essv5102539, essv5106639, essv5012787, essv5158096, essv5069236, essv5124759, essv5011770, essv5014749, essv5110310, essv5126208, essv5141818, essv5026628, essv5037025, essv5056419, essv5059327, essv5067424, essv5068016, essv5007554, essv5069021, essv5139380, essv5036917, essv5019564, essv5119597, essv5012325, essv5056141, essv5012292, essv5006055, essv5148288, essv5064728, essv5072025, essv5132733, essv5045935, essv5072021, essv5122516, essv5026281, essv5088895, essv5106605, essv5043797, essv5050034, essv5094105, essv5110097, essv5143803, essv5067445, essv5048852, essv5148233, essv5103353, essv5033002, essv5070126, essv5105961, essv5135468, essv5114188, essv5087746, essv5009606, essv5030709, essv5035825, essv5072886, essv5077933, essv5054061, essv5073955, essv5088510, essv5109427, essv5010829, essv5071935, essv5098104, essv5104681, essv5138384, essv5033638, essv5059313, essv5083718, essv5122757, essv5012873, essv5023638, essv5109207, essv5151523, essv5037883, essv5078674, essv5080657, essv5103566, essv5029324, essv5060889, essv5158857, essv5040557, essv5098340, essv5013594, essv5039999, essv5015930, essv5108082, essv5007810, essv5062714, essv5140954, essv5091131, essv5120612, essv5121618, essv5158713, essv5030742, essv5020471, essv5143007, essv5050883, essv5050472, essv5087527, essv5031202, essv5159995, essv5088840, essv5122179, essv5065524, essv5095083, essv5158513, essv5016358, essv5080965, essv5097361, essv5152218, essv5008317, essv5016858, essv5128886, essv5094389, essv5143868, essv5144031, essv5064329, essv5144811, essv5049660, essv5068137, essv5105338, essv5062546, essv5153641, essv5044788, essv5146948, essv5112278, essv5121502, essv5151579, essv5075138, essv5091749, essv5139898, essv5054104, essv5159936, essv5155178, essv5158469, essv5035240, essv5008650, essv5060770, essv5058889, essv5022896, essv5031507, essv5088123, essv5042556, essv5105915, essv5107546, essv5069903, essv5071291, essv5014713, essv5055583, essv5056612, essv5097476, essv5026213, essv5104288, essv5103421, essv5131210, essv5031904, essv5115662, essv5151368, essv5159458, essv5026194, essv5097148, essv5152324, essv5013862, essv5137899, essv5142009, essv5157136, essv5005221, essv5100490, essv5012055, essv5060897, essv5090110, essv5122700, essv5004911, essv5009396, essv5081896, essv5109080, essv5131767, essv5053815, essv5111195, essv5048576, essv5114735, essv5075474, essv5130176, essv5136366, essv5143336, essv5117998, essv5054973, essv5060312, essv5119168, essv5130867, essv5036786, essv5095887, essv5155957, essv5081154, essv5116472, essv5129428, essv5005985, essv5085498, essv5051168, essv5159687, essv5138982, essv5103895, essv5098007, essv5027824, essv5117853, essv5150475, essv5088447, essv5120831, essv5022118, essv5138507, essv5081295, essv5087148, essv5052096, essv5062210, essv5126873, essv5087996, essv5061662, essv5031714, essv5117538, essv5065005, essv5066480, essv5114760, essv5131153, essv5151000, essv5119926, essv5024491, essv5111762, essv5075088, essv5002995, essv5092842, essv5028456, essv5029791, essv5078031, essv5109636, essv5024438, essv5061422, essv5004670, essv5042725, essv5063112, essv5087208, essv5078819, essv5096206
SamplesNA17989, NA12767, NA18621, NA20903, NA21417, NA20876, NA12818, NA12489, NA21438, NA21512, NA18616, NA21390, NA18951, NA19665, NA12286, NA19081, NA21693, NA20752, NA20510, NA18757, NA12347, NA19093, NA19120, NA19178, NA20535, NA17982, NA12815, NA18545, NA21718, NA18128, NA20902, NA12828, NA18947, NA18134, NA20292, NA19775, NA18855, NA07348, NA18507, NA19760, NA19834, NA18994, NA20805, NA19685, NA20277, NA19656, NA19678, NA19915, NA18156, NA19701, NA20895, NA19180, NA18745, NA20755, NA12376, NA20521, NA21368, NA18506, NA19761, NA19776, NA20295, NA18596, NA18949, NA19226, NA21528, NA19143, NA17993, NA12865, NA19077, NA19062, NA19067, NA18979, NA18998, NA19085, NA18967, NA19650, NA20875, NA12056, NA18627, NA20849, NA19059, NA19076, NA21493, NA18957, NA18536, NA19660, NA21716, NA18622, NA18960, NA12864, NA18618, NA07357, NA18623, NA19900, NA18162, NA12873, NA18641, NA18990, NA21301, NA18118, NA18991, NA18930, NA18636, NA18592, NA19088, NA21587, NA12761, NA18638, NA21513, NA19066, NA21453, NA20765, NA21116, NA19182, NA20364, NA12829, NA18485, NA11894, NA18973, NA19835, NA20282, NA18916, NA19773, NA18593, NA19056, NA19663, NA20892, NA19457, NA12777, NA18634, NA18643, NA19086, NA18970, NA19324, NA19000, NA19055, NA19313, NA18149, NA19129, NA19759, NA17966, NA17988, NA18120, NA18572, NA18954, NA19680, NA19094, NA20760, NA20512, NA21316, NA18923, NA20345, NA20795, NA20826, NA21434, NA12275, NA18875, NA19119, NA21141, NA18106, NA18151, NA20540, NA21455, NA18558, NA18977, NA19664, NA19901, NA19139, NA19175, NA19836, NA20350, NA19763, NA11892, NA18487, NA18942, NA18961, NA20774, NA18613, NA19001, NA20582, NA18997, NA10836, NA20766, NA19074, NA19159, NA18125, NA17987, NA20813, NA19789, NA19902, NA18940, NA21103, NA20297, NA12891, NA18582, NA18999, NA20581, NA18597, NA21378, NA19138, NA20358, NA20756, NA21682, NA18599, NA18909, NA18955, NA20357, NA21420, NA19078, NA21439, NA18995, NA20302, NA21344, NA19403, NA19128, NA18133, NA19009, NA21109, NA19116, NA10835, NA20287, NA18971, NA18602, NA10845, NA19099, NA18146, NA19649, NA21086, NA18141, NA18946, NA19064, NA21366, NA17976, NA19749, NA18944, NA19063, NA19225, NA19327, NA21117, NA19224, NA21414, NA12546, NA21436, NA12248, NA18571, NA18924, NA19198, NA20758, NA21597, NA12817, NA19118, NA20872, NA20792, NA21356, NA18108, NA10840, NA19171, NA19346, NA20528, NA12874, NA17968, NA18112, NA21355, NA19079, NA20524, NA12760, NA17965, NA20517, NA21091, NA19661, NA19456, NA20301, NA17995, NA19202, NA19058, NA10864, NA21494, NA18962, NA21526, NA07435, NA20281, NA19183, NA20887, NA18863, NA19625, NA21142, NA20874, NA19352, NA11930, NA18158, NA20522, NA21524, NA20859, NA12802, NA20866, NA18561, NA21317, NA18952, NA21776, NA18874, NA19173, NA12752, NA12875, NA20906, NA21448, NA20343, NA20508, NA19149, NA19072, NA18639, NA19317, NA12813, NA19751, NA18969, NA18972, NA19010, NA18608, NA19184
Known GenesHLA-H
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)esv2422126
Frequency
Sample Size1184
Observed Gain0
Observed Loss318
Observed Complex0
Frequencyn/a


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