Variant DetailsVariant: esv2421799 | Internal ID | 8252247 | | Landmark | | | Location Information | | | Cytoband | 21q11.2 | | Allele length | | Assembly | Allele length | | hg38 | 97719 | | hg19 | 97719 | | hg18 | 97719 |
| | Variant Type | CNV deletion | | Copy Number | | | Allele State | | | Allele Origin | | | Probe Count | | | Validation Flag | | | Merged Status | M | | Merged Variants | | | Supporting Variants | essv5011773, essv5095518, essv5138060, essv5137845, essv5065313, essv5023277, essv5110596, essv5009883, essv5066503, essv5019502, essv5136756, essv5019290, essv5157563, essv5140798, essv5016356, essv5043740, essv5131333, essv5059915, essv5140609, essv5092639, essv5142959, essv5144118, essv5145643, essv5016255, essv5132238, essv5050978, essv5125176, essv5039682, essv5106753, essv5006330, essv5152891, essv5064912, essv5070381, essv5139591, essv5095579, essv5131340, essv5046688, essv5120885, essv5095509, essv5031766, essv5070925, essv5010673, essv5130891, essv5008052, essv5069573, essv5006206, essv5098744, essv5158488, essv5103988, essv5088542, essv5149216, essv5098216, essv5014205, essv5111565, essv5101230, essv5134847, essv5030434, essv5094862, essv5004274, essv5006944, essv5124569, essv5035288, essv5157936, essv5137800, essv5124776, essv5150415, essv5094445, essv5044301, essv5128873, essv5061607, essv5039579, essv5117761, essv5134757, essv5066957, essv5120980, essv5005866, essv5070418, essv5018615, essv5157566, essv5075694, essv5075039, essv5048446, essv5134680, essv5151008, essv5011997, essv5094198, essv5071978, essv5051107, essv5143505, essv5095248, essv5054471, essv5014233, essv5049786, essv5008223, essv5030269, essv5050764, essv5082794, essv5068387, essv5083232, essv5089532, essv5082140, essv5081829, essv5131160, essv5115798, essv5064773, essv5004974, essv5035612, essv5086111, essv5053472, essv5104101, essv5120211, essv5123433, essv5025409, essv5013539, essv5016847, essv5053390, essv5034478, essv5017308, essv5059028, essv5097463, essv5142972, essv5021484, essv5040261, essv5057574, essv5061363, essv5158725, essv5127879, essv5149360, essv5034119, essv5128011, essv5095359, essv5039528, essv5037058, essv5074596, essv5152950, essv5032244, essv5127604, essv5152502, essv5042205, essv5023211, essv5125298, essv5090883, essv5008363, essv5094299, essv5074394, essv5052697, essv5017768, essv5126908, essv5153049, essv5066053, essv5058913, essv5019853, essv5020885, essv5053544, essv5019966, essv5090055, essv5100710, essv5057930, essv5086200, essv5078365, essv5010103, essv5156796, essv5144699, essv5007654, essv5143889, essv5129804, essv5095827, essv5008894, essv5085330, essv5051843, essv5007785, essv5103680, essv5081288, essv5059776, essv5039324, essv5121407, essv5093687, essv5137059, essv5019173, essv5032173, essv5117017, essv5048726, essv5091072, essv5074673, essv5002065, essv5083309, essv5037126, essv5042499, essv5007028, essv5125441, essv5071896, essv5023979, essv5072363, essv5011455, essv5107710, essv5081663, essv5037861, essv5117916, essv5082919, essv5157411, essv5151979, essv5028508, essv5139710, essv5025246, essv5145735, essv5061957, essv5036930, essv5065942, essv5151648, essv5027434, essv5123917, essv5157859, essv5027614, essv5161098, essv5089681, essv5049764, essv5020649, essv5012683, essv5115159, essv5091216, essv5158371, essv5133082, essv5047897, essv5070068, essv5146192, essv5117561, essv5011383, essv5063142, essv5010919, essv5082247, essv5023956, essv5031512, essv5159689, essv5061473, essv5080556, essv5066046, essv5033252, essv5011178, essv5052630, essv5150832, essv5079429, essv5105284, essv5078644, essv5042716, essv5047844, essv5006176, essv5033672, essv5021812, essv5030339, essv5127351, essv5126646, essv5127908, essv5094354, essv5022026, essv5023103, essv5142328, essv5095693, essv5031558, essv5026677, essv5099512, essv5025192, essv5046492, essv5043500, essv5139370, essv5102231, essv5020125, essv5050226, essv5030939, essv5089167, essv5052236, essv5090222, essv5028383, essv5128040, essv5022304, essv5150452, essv5069436, essv5044813, essv5156305, essv5139482, essv5091105, essv5098419, essv5033609, essv5024761, essv5035262, essv5139169, essv5112548, essv5091807, essv5091168, essv5124553, essv5118892, essv5055490, essv5040399, essv5024278, essv5150018, essv5158015, essv5041266, essv5066680, essv5116827, essv5088080, essv5033013, essv5015911, essv5049382, essv5113562, essv5113075, essv5007636, essv5155818, essv5134567, essv5115866, essv5006228, essv5024195, essv5130557, essv5051079, essv5033874, essv5013177, essv5084704, essv5158378, essv5121448, essv5009728, essv5116077, essv5013343, essv5085076, essv5048963, essv5067979, essv5046043, essv5108492, essv5018817, essv5003309, essv5155536, essv5149663, essv5020525, essv5122467, essv5017960, essv5091238, essv5061300, essv5154302, essv5017357, essv5131400, essv5098191, essv5125774, essv5036137, essv5116513, essv5095636, essv5068923, essv5004512, essv5109090, essv5020594, essv5098462, essv5022264, essv5128065, essv5048857, essv5003290, essv5128814, essv5137559, essv5118110, essv5150255, essv5133794, essv5092402, essv5079729, essv5075596, essv5064922, essv5026298, essv5085758, essv5156553, essv5100861, essv5119732, essv5077242, essv5075943, essv5151860, essv5136027, essv5017194, essv5103395, essv5093617, essv5072877, essv5149747, essv5080306, essv5143178, essv5005167, essv5098284, essv5020398, essv5022775, essv5090825, essv5088438, essv5147769, essv5051208, essv5133926, essv5104488, essv5048036, essv5158954, essv5105128, essv5035094, essv5004166, essv5114678, essv5051451, essv5017482, essv5145456, essv5100560, essv5148419, essv5015728, essv5093995, essv5038807, essv5090211, essv5049832, essv5016738, essv5050078, essv5138695, essv5070165, essv5036661, essv5125942, essv5059221, essv5005220, essv5130533, essv5128827, essv5064607, essv5088130, essv5091530, essv5049890, essv5031607, essv5111628, essv5014909, essv5026363, essv5050155, essv5020182, essv5002374, essv5147614, essv5074923, essv5038700, essv5159404, essv5142960, essv5106796, essv5015725, essv5086545, essv5070917, essv5021793, essv5119432, essv5005505, essv5006629, essv5010440, essv5105774, essv5084633, essv5057463, essv5077675, essv5127488, essv5090028, essv5038756, essv5133058, essv5148905, essv5158588, essv5030818, essv5041976, essv5042284, essv5048724, essv5010189, essv5144525, essv5018361, essv5074898, essv5101434, essv5148491, essv5123593, essv5003531, essv5120678, essv5036314, essv5142297, essv5034464, essv5006834, essv5089452, essv5043195, essv5030712, essv5086858, essv5078461, essv5030100, essv5124601, essv5083162, essv5066242, essv5139788, essv5074120, essv5153173, essv5140660, essv5139977, essv5084996, essv5096719, essv5134578, essv5024583, essv5125955, essv5124278, essv5077288, essv5032895, essv5102827, essv5047130, essv5059164, essv5019467, essv5110392, essv5074365, essv5029369, essv5155871, essv5116061, essv5093828, essv5100254, essv5076824, essv5012983, essv5156304, essv5098901, essv5115686, essv5047115, essv5037810, essv5062363, essv5084571, essv5051936, essv5012788, essv5030558, essv5008529, essv5082118, essv5034580, essv5106214, essv5083105, essv5153898, essv5157663, essv5041318, essv5150743, essv5140492, essv5094935, essv5153680, essv5159940, essv5117594, essv5136099, essv5108794, essv5135595, essv5036116, essv5072323, essv5037860, essv5031755, essv5005722, essv5118541, essv5108705, essv5152206, essv5102867, essv5020460, essv5085720, essv5078791, essv5121635, essv5011199, essv5141480, essv5041164, essv5154823, essv5079833, essv5152643, essv5123704, essv5084440, essv5156281, essv5083679, essv5017371 | | Samples | NA21636, NA19058, NA21317, NA21683, NA21488, NA18621, NA18947, NA18647, NA18524, NA21489, NA21457, NA21367, NA17990, NA19377, NA21475, NA21408, NA21738, NA18152, NA20359, NA21434, NA19446, NA19127, NA19192, NA19171, NA19379, NA21378, NA19315, NA19191, NA18101, NA18993, NA18618, NA21297, NA18916, NA21479, NA12762, NA21613, NA20291, NA19079, NA21574, NA19238, NA19226, NA19239, NA21357, NA21420, NA21387, NA21400, NA18867, NA18129, NA20360, NA21307, NA12489, NA21587, NA19120, NA19070, NA19056, NA21448, NA21596, NA19175, NA18674, NA19184, NA19176, NA20875, NA21438, NA20876, NA18548, NA17979, NA19142, NA18875, NA19181, NA21295, NA18532, NA12145, NA19059, NA19009, NA19452, NA21356, NA19682, NA19132, NA12778, NA21309, NA19625, NA21316, NA21608, NA18108, NA18114, NA19440, NA19256, NA18517, NA18863, NA19434, NA19140, NA21528, NA21336, NA19444, NA18128, NA21768, NA21718, NA21582, NA19083, NA18943, NA20281, NA19182, NA17995, NA20897, NA19117, NA21435, NA19705, NA18631, NA19223, NA19102, NA18873, NA18138, NA21722, NA21384, NA19129, NA19044, NA18612, NA19429, NA18487, NA19431, NA18577, NA21403, NA18998, NA18497, NA20284, NA19237, NA21686, NA19186, NA19466, NA19249, NA20292, NA12767, NA18166, NA18561, NA18507, NA21597, NA17975, NA18641, NA17966, NA19819, NA21717, NA20346, NA19669, NA19836, NA19190, NA18962, NA19746, NA19076, NA18550, NA20861, NA18595, NA20900, NA18860, NA19916, NA19352, NA19131, NA18942, NA19313, NA19054, NA18498, NA20336, NA21510, NA19038, NA18749, NA21512, NA19719, NA19915, NA19371, NA21525, NA21453, NA19075, NA18617, NA19471, NA18131, NA19159, NA21825, NA21716, NA19189, NA18520, NA21601, NA21362, NA19209, NA12375, NA18973, NA18158, NA19451, NA19247, NA20858, NA20524, NA12753, NA19077, NA19462, NA19347, NA18859, NA19327, NA18991, NA19982, NA21439, NA19788, NA21118, NA18910, NA18976, NA20770, NA19097, NA19983, NA19221, NA18133, NA19118, NA19000, NA18518, NA18499, NA21826, NA20881, NA18946, NA19001, NA18853, NA20282, NA19225, NA21583, NA19160, NA18536, NA21521, NA21573, NA18978, NA19183, NA18162, NA19834, NA19108, NA18952, NA20295, NA21527, NA21733, NA21647, NA21517, NA19919, NA21615, NA19193, NA18869, NA21619, NA21513, NA21125, NA19818, NA19143, NA21379, NA19109, NA21364, NA19438, NA21404, NA19472, NA19173, NA19828, NA18506, NA21614, NA19726, NA18149, NA17988, NA21385, NA21303, NA19146, NA20322, NA19148, NA21514, NA21440, NA19153, NA19394, NA18745, NA12383, NA19258, NA20882, NA19701, NA18139, NA19703, NA21524, NA19909, NA18862, NA18508, NA18855, NA18935, NA21352, NA19350, NA19359, NA20294, NA12340, NA21301, NA21360, NA20364, NA20356, NA21522, NA20771, NA18510, NA18602, NA18627, NA19107, NA18563, NA18940, NA21520, NA18597, NA21473, NA19307, NA18923, NA07347, NA19784, NA18571, NA21493, NA21353, NA20287, NA19904, NA19130, NA18159, NA19041, NA21650, NA21529, NA19215, NA19372, NA11994, NA19207, NA20889, NA21689, NA20342, NA19708, NA21344, NA19027, NA20301, NA21415, NA21313, NA19908, NA18747, NA21575, NA19403, NA19194, NA21119, NA20885, NA19161, NA18485, NA19455, NA21300, NA18871, NA19103, NA21366, NA19208, NA19202, NA21308, NA20866, NA19150, NA20581, NA19151, NA18156, NA18930, NA18912, NA20856, NA19154, NA18857, NA17965, NA19099, NA19469, NA18858, NA18974, NA18953, NA19375, NA18146, NA19309, NA19390, NA19115, NA19147, NA20276, NA21576, NA20815, NA19072, NA18913, NA21368, NA21123, NA20527, NA19835, NA20792, NA19324, NA19311, NA19783, NA21361, NA18610, NA18501, NA18484, NA21090, NA07349, NA19468, NA19474, NA19211, NA19093, NA18636, NA18509, NA19185, NA20786, NA19116, NA19711, NA18872, NA19430, NA18957, NA21363, NA19316, NA18968, NA19463, NA18623, NA19063, NA20908, NA20754, NA19346, NA19214, NA19141, NA19222, NA21383, NA19203, NA21577, NA21620, NA18153, NA19914, NA19332, NA21436, NA21399, NA18917, NA18486, NA18545, NA21648, NA19393, NA21693, NA18870, NA21784, NA19381, NA19005, NA18944, NA21405, NA19382, NA21600, NA20279, NA19902, NA19119, NA19198, NA21355, NA21401, NA18161, NA19138, NA20288, NA21370, NA18611, NA21402, NA18970, NA19383, NA18977, NA21454, NA19917, NA19137, NA19317, NA21632, NA21478, NA20869, NA20343, NA20347, NA20811, NA19901, NA21634, NA21442, NA19445, NA18975, NA21320, NA21451, NA19200, NA21494, NA18140, NA21599, NA21480, NA19210, NA19437, NA21318, NA18934, NA21682, NA19152, NA18956, NA18515, NA18939, NA18516, NA18151, NA18637, NA18503, NA18630, NA11839, NA21485, NA19179, NA18566, NA20337, NA19114, NA19449, NA21141, NA21339, NA17967, NA12249, NA19113, NA19101, NA19257, NA19095, NA19436, NA21302, NA18608, NA19727, NA19094, NA21314, NA18914, NA21424, NA19206, NA18542, NA19918, NA18909, NA21719, NA19321, NA18961, NA17962, NA19473, NA19435, NA19240, NA19174, NA21425, NA19144, NA19334, NA21740, NA19439, NA19467, NA07037, NA18911, NA20357, NA19398, NA20348, NA20302, NA18971, NA21580, NA20334, NA18994, NA18500, NA17987, NA19096, NA18854, NA21455, NA19213, NA21389, NA21490, NA18852, NA19224, NA18955, NA18488, NA19139, NA18511, NA20363, NA18562, NA21333 | | Known Genes | ANKRD30BP2 | | Method | SNP array | | Analysis | To assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays. | | Platform | Not specified | | Comments | | | Reference | Altshuler_et_al_2010 | | Pubmed ID | 20811451 | | Accession Number(s) | esv2421799
| | Frequency | | Sample Size | 1184 | | Observed Gain | 0 | | Observed Loss | 550 | | Observed Complex | 0 | | Frequency | n/a |
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