A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421813



Internal ID7905575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:42629896..42630882hg38UCSC Ensembl
Innerchr5:42629998..42630984hg19UCSC Ensembl
Innerchr5:42665755..42666741hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg38987
hg19987
hg18987
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5066350, essv5105733, essv5046486, essv5096898, essv5013010, essv5074245, essv5049800, essv5080079, essv5085360, essv5159006, essv5067597, essv5144313, essv5093847, essv5098160, essv5019191, essv5127295, essv5146715, essv5150605, essv5032225, essv5140970, essv5155870, essv5095226, essv5147412, essv5093976, essv5156441, essv5142310, essv5128532, essv5071328, essv5041602, essv5054353, essv5048991, essv5071979, essv5104966, essv5148578, essv5057626, essv5127433, essv5054480, essv5153344, essv5081812, essv5156906, essv5026942, essv5002764, essv5120658, essv5157533, essv5013598, essv5013705, essv5116335, essv5033855, essv5141811, essv5119786, essv5098910, essv5133223, essv5147442, essv5079752, essv5143010, essv5048474, essv5062132, essv5147035, essv5145475, essv5054307, essv5112044, essv5094944, essv5017732, essv5011615, essv5053802, essv5077715, essv5080933, essv5098883, essv5075988, essv5020728, essv5136389, essv5032796, essv5034788, essv5046002, essv5087426, essv5138983, essv5010445, essv5013001, essv5043236, essv5125689, essv5070782, essv5099708, essv5030164, essv5093784, essv5059638, essv5101423, essv5130461, essv5139695, essv5125658, essv5135163, essv5047772, essv5087331, essv5159202, essv5123502, essv5036727, essv5047375, essv5107758, essv5091466, essv5149620, essv5056199, essv5091667, essv5157326, essv5076716, essv5128917, essv5090481, essv5152421, essv5151298, essv5048458, essv5013696, essv5007958, essv5146731, essv5148053, essv5063129, essv5023806, essv5143140, essv5144763, essv5145909, essv5026911, essv5072815, essv5032324, essv5082760, essv5002578, essv5027546, essv5038091, essv5088589, essv5141726, essv5007019, essv5007682, essv5028289, essv5009326, essv5077519, essv5161084, essv5017984, essv5019284, essv5032296, essv5060353, essv5113869, essv5115254, essv5011884, essv5090083, essv5043761, essv5090983, essv5053214, essv5154620, essv5154918, essv5064820, essv5088938, essv5075123, essv5048699, essv5094156, essv5117183, essv5144598, essv5156674, essv5014968, essv5140583, essv5077508, essv5133180, essv5008583, essv5089184, essv5113238, essv5160380, essv5014389, essv5028013, essv5096266, essv5108586, essv5111466, essv5125344, essv5124635, essv5132220, essv5039550, essv5011388, essv5046785, essv5090360, essv5111200, essv5057542, essv5146249, essv5010686, essv5076139, essv5079033, essv5123242, essv5025436, essv5010861, essv5121887, essv5006820, essv5043206, essv5136489, essv5113927, essv5003049, essv5030247, essv5072869, essv5080559, essv5082823, essv5146995, essv5059146, essv5061962, essv5158927, essv5048351, essv5077922, essv5126352, essv5045503, essv5024574, essv5094519, essv5041932, essv5068428, essv5034287, essv5075033, essv5020711, essv5068432, essv5087899, essv5063922, essv5149713, essv5002330, essv5056392, essv5059597, essv5151789, essv5007485, essv5133618, essv5139738, essv5107975, essv5048760, essv5115200, essv5132045, essv5033879, essv5030608, essv5037174, essv5059435, essv5026204, essv5054800, essv5057677, essv5084302, essv5088423, essv5142831, essv5092943, essv5107693, essv5021877, essv5076006, essv5151900, essv5159032, essv5012823, essv5147903, essv5064803, essv5106274, essv5039749, essv5053667, essv5090549, essv5091117, essv5128599, essv5139142, essv5004204, essv5012220, essv5077034, essv5007521, essv5029635, essv5106739, essv5142650, essv5089615, essv5098899, essv5021997, essv5058379, essv5051193, essv5076634, essv5115583, essv5002058, essv5018513, essv5062498, essv5104512, essv5131361, essv5103507, essv5037937, essv5135465, essv5081866, essv5094272, essv5018566, essv5108887, essv5016336, essv5115158, essv5130976, essv5050779, essv5075158, essv5140367, essv5011724, essv5077187, essv5132350, essv5128534, essv5125229, essv5127520, essv5085067, essv5034997, essv5139463, essv5120089, essv5038307, essv5005069, essv5090905, essv5112075, essv5153071, essv5058756, essv5013137, essv5031261, essv5127098, essv5011432, essv5069053, essv5154424, essv5067386, essv5123091, essv5047009, essv5122801, essv5004946, essv5075936, essv5086542, essv5017490, essv5093718, essv5125713, essv5006634, essv5058296, essv5072927, essv5052758, essv5148723, essv5027717, essv5039197, essv5032379, essv5116118, essv5089725, essv5094811, essv5095534, essv5002000, essv5106696, essv5122875, essv5058632, essv5100051, essv5126150, essv5062745, essv5095368, essv5149373, essv5061646, essv5036568, essv5110426, essv5121544, essv5142018, essv5046525, essv5020348, essv5025162, essv5016856, essv5088552, essv5134815, essv5157828, essv5002078, essv5079934, essv5023240, essv5136959, essv5100518, essv5151422, essv5090912, essv5024250, essv5007667, essv5078567, essv5080641, essv5160338, essv5105617, essv5028641, essv5024885, essv5087793, essv5094455, essv5114730, essv5006714, essv5096791, essv5133463, essv5141353, essv5149419, essv5066579, essv5085347, essv5124331, essv5048439, essv5124926, essv5132029, essv5004042, essv5025714, essv5015505, essv5139042, essv5039432, essv5131535, essv5047715, essv5060603, essv5063525, essv5061306, essv5130110, essv5064644, essv5091418, essv5097909, essv5098061, essv5108414, essv5060207, essv5032601, essv5140801, essv5095547, essv5100510, essv5157886, essv5020726, essv5086896, essv5117994, essv5083429, essv5102364, essv5109788, essv5149033, essv5015939, essv5118235, essv5136277, essv5110250, essv5142677, essv5116132, essv5155145, essv5029278, essv5044055, essv5092057, essv5093816, essv5144438, essv5084836, essv5088569, essv5003383, essv5040031, essv5040502, essv5095978, essv5145153, essv5150801, essv5040736, essv5089702, essv5152855, essv5037994, essv5133025, essv5133107, essv5005266, essv5071643, essv5093136, essv5068605, essv5156278, essv5002959, essv5058975, essv5129176, essv5028945, essv5075652, essv5080527, essv5090969, essv5105518, essv5009575, essv5063685, essv5157024, essv5050636, essv5084036, essv5009042, essv5041408, essv5125858, essv5033912, essv5066434, essv5070667, essv5112475, essv5158654, essv5108465, essv5047569, essv5061960, essv5127795, essv5046831, essv5061513, essv5082448, essv5121712, essv5055326, essv5038840, essv5151145, essv5055059, essv5128556, essv5039693, essv5013545, essv5046877, essv5155487, essv5101303, essv5029293, essv5147761, essv5041031, essv5045723, essv5011132, essv5072694, essv5079600, essv5093943, essv5094157, essv5005732, essv5137156, essv5149432, essv5043872, essv5096107, essv5030829, essv5161125, essv5063927, essv5072920, essv5013950, essv5020825, essv5092556, essv5096129, essv5154009, essv5031417, essv5096148, essv5147174, essv5023740, essv5083190, essv5060647, essv5103842, essv5125017, essv5007052, essv5092898, essv5058647, essv5064529, essv5061298, essv5098349, essv5005836, essv5098385, essv5115779, essv5156146, essv5011646, essv5045078, essv5122662, essv5080222, essv5093649, essv5020617, essv5033526, essv5126430, essv5126725, essv5001955, essv5065832, essv5066628, essv5099411, essv5152848, essv5148502, essv5084320, essv5019841, essv5097173, essv5106774, essv5095091, essv5148664, essv5155473, essv5160137, essv5018020, essv5020980, essv5081746, essv5048278, essv5002046, essv5004929, essv5078299, essv5126104, essv5122333, essv5027169, essv5122873, essv5039235, essv5085444, essv5054993, essv5122124, essv5127715, essv5130259, essv5029351, essv5057715, essv5021196, essv5135849, essv5082262, essv5067706, essv5031052, essv5047730, essv5006307, essv5145941, essv5149345, essv5127670, essv5121649, essv5141528, essv5021968, essv5003403, essv5113511, essv5114204, essv5094039, essv5073411, essv5143904, essv5037727, essv5129392, essv5139253, essv5100369, essv5034431, essv5021361, essv5021403, essv5099734, essv5047420, essv5138874, essv5042990, essv5115149, essv5127112, essv5113431, essv5141360, essv5086909, essv5110913, essv5032180, essv5073901, essv5089713, essv5086130, essv5135022, essv5093979, essv5151460, essv5004685, essv5121150, essv5118782, essv5101156, essv5039168, essv5078653, essv5120236, essv5130586, essv5150503, essv5079661, essv5152494, essv5104424, essv5065091, essv5115736, essv5133045, essv5053564, essv5152400, essv5034445, essv5133713, essv5081588, essv5025410
SamplesNA10859, NA19146, NA21634, NA19207, NA18870, NA19248, NA12154, NA12818, NA21723, NA21512, NA19192, NA21631, NA18871, NA20907, NA12286, NA19081, NA07349, NA21320, NA20851, NA18757, NA21447, NA19120, NA20544, NA20796, NA19311, NA19469, NA21685, NA12264, NA18516, NA20800, NA17981, NA18517, NA18161, NA20292, NA21415, NA10853, NA18507, NA21357, NA19685, NA11891, NA19257, NA20845, NA21312, NA19701, NA19180, NA21611, NA12766, NA20322, NA19472, NA19208, NA18862, NA21384, NA18868, NA18139, NA19140, NA20505, NA20856, NA12763, NA19239, NA20875, NA11840, NA19076, NA18154, NA19917, NA18536, NA19675, NA10846, NA19471, NA18143, NA19083, NA19096, NA20127, NA12761, NA18956, NA19429, NA10852, NA21647, NA18497, NA17977, NA19985, NA11831, NA18485, NA18637, NA20520, NA18916, NA21738, NA18593, NA19181, NA21408, NA21451, NA19036, NA19086, NA19700, NA21399, NA12144, NA20341, NA19324, NA19190, NA21491, NA21826, NA20769, NA21442, NA19247, NA19313, NA20128, NA12239, NA12145, NA19080, NA18149, NA18515, NA19671, NA19771, NA19372, NA20291, NA19374, NA21316, NA12778, NA18939, NA19384, NA12348, NA12877, NA19716, NA21388, NA19027, NA20345, NA20795, NA20910, NA19102, NA20753, NA21107, NA18510, NA21379, NA19119, NA19215, NA18106, NA19176, NA21455, NA19708, NA21308, NA19154, NA19705, NA21382, NA19139, NA21303, NA18961, NA19237, NA20347, NA21527, NA18925, NA20290, NA20797, NA19720, NA12283, NA18910, NA21092, NA20129, NA21336, NA19711, NA20813, NA06997, NA19141, NA19777, NA18940, NA19235, NA12890, NA19921, NA21378, NA07055, NA19138, NA19376, NA20358, NA12272, NA20756, NA21476, NA21682, NA18909, NA19391, NA19723, NA18152, NA19201, NA21439, NA20302, NA19193, NA12413, NA19128, NA12812, NA18857, NA20518, NA20850, NA21509, NA12889, NA19116, NA21733, NA18631, NA19431, NA20337, NA21360, NA20289, NA19747, NA20287, NA19097, NA21383, NA19755, NA19818, NA21480, NA21576, NA21086, NA21089, NA21362, NA18548, NA20317, NA21366, NA18944, NA19225, NA18852, NA19224, NA12546, NA18689, NA21436, NA20869, NA21722, NA18499, NA20288, NA20359, NA20543, NA19198, NA21597, NA20872, NA12045, NA19315, NA18108, NA10840, NA11829, NA19130, NA19240, NA19346, NA20335, NA21719, NA12874, NA19204, NA19350, NA20898, NA21355, NA20804, NA21387, NA12832, NA19185, NA19087, NA21302, NA19385, NA19724, NA19202, NA19466, NA21636, NA21494, NA21768, NA18105, NA10861, NA07435, NA19142, NA20281, NA19137, NA19183, NA12827, NA12718, NA19445, NA19625, NA12249, NA19436, NA10843, NA12748, NA19352, NA21490, NA12344, NA19044, NA21125, NA20890, NA20349, NA12802, NA20785, NA21367, NA21678, NA18561, NA21317, NA21578, NA18933, NA19404, NA21580, NA21776, NA07056, NA18874, NA19173, NA19174, NA12752, NA12875, NA20516, NA20906, NA21478, NA21123, NA21599, NA18869, NA20343, NA18500, NA21307, NA17990, NA19149, NA18570, NA18511, NA18993, NA20294, NA20802, NA20881, NA20775, NA18948, NA19670, NA21435, NA19203, NA19451, NA21118, NA20816, NA19718, NA19150, NA20342, NA18573, NA21403, NA20778, NA21479, NA19184, NA19782, NA21371, NA21386, NA18702, NA18484, NA19210, NA20900, NA19834, NA20588, NA20363, NA18157, NA21457, NA19108, NA21295, NA21489, NA18488, NA12341, NA12044, NA19467, NA20877, NA21368, NA18506, NA18873, NA19147, NA20883, NA20295, NA19226, NA19438, NA21528, NA21400, NA18632, NA20770, NA12865, NA19117, NA21314, NA18559, NA11882, NA19914, NA18670, NA17986, NA19161, NA19982, NA20854, NA21309, NA12843, NA18624, NA18508, NA19054, NA20819, NA20356, NA12336, NA19662, NA12383, NA18566, NA18957, NA11994, NA19660, NA21615, NA18563, NA18618, NA21421, NA07357, NA19722, NA20783, NA20801, NA18930, NA20807, NA12814, NA19396, NA21582, NA19397, NA21359, NA21587, NA19440, NA21453, NA21683, NA20541, NA20882, NA21477, NA18140, NA19182, NA20364, NA21523, NA12829, NA19256, NA21352, NA21522, NA19835, NA20282, NA20336, NA19658, NA21608, NA19679, NA12830, NA21650, NA20589, NA19316, NA19919, NA19213, NA07045, NA20901, NA21740, NA19153, NA18620, NA19172, NA07014, NA21333, NA19703, NA21311, NA19094, NA19375, NA20126, NA21318, NA18685, NA19103, NA20512, NA19206, NA19373, NA18498, NA18923, NA19784, NA18486, NA21434, NA21514, NA18875, NA20334, NA20344, NA19713, NA21739, NA20540, NA18558, NA19098, NA21574, NA18749, NA19901, NA21648, NA19175, NA19704, NA19836, NA20350, NA20818, NA18487, NA19347, NA20828, NA19332, NA19909, NA21370, NA21475, NA19074, NA19131, NA19159, NA21616, NA18579, NA19307, NA18974, NA21440, NA19462, NA19902, NA20891, NA20360, NA21313, NA18159, NA18543, NA21103, NA21401, NA11832, NA19258, NA20297, NA18582, NA12739, NA20534, NA21521, NA21635, NA20357, NA18911, NA19101, NA12749, NA18995, NA21344, NA18867, NA19394, NA19403, NA21601, NA18872, NA18133, NA21389, NA18129, NA18971, NA18602, NA19099, NA20509, NA21519, NA20300, NA19452, NA21620, NA11992, NA19770, NA19041, NA19327, NA18917, NA19399, NA20812, NA21405, NA21414, NA19160, NA21583, NA19179, NA12817, NA19118, NA19470, NA21356, NA18611, NA20528, NA17968, NA18853, NA21105, NA18935, NA19249, NA19473, NA20870, NA21391, NA20502, NA20517, NA20538, NA19200, NA19007, NA20519, NA21365, NA19456, NA20301, NA18519, NA20279, NA07000, NA12775, NA19121, NA19439, NA21617, NA12767, NA11881, NA20903, NA21417, NA19127, NA12489, NA18605, NA07347, NA19031, NA19712, NA21441, NA18509, NA18520, NA19904, NA21390, NA18594, NA20862, NA21473, NA19819, NA21693, NA12342, NA19437, NA19114, NA11920, NA19677, NA21529, NA18501, NA20535, NA10839, NA20531, NA21575, NA18859, NA18545, NA19319, NA20759, NA19186, NA18128, NA21300, NA19449, NA12005, NA18489, NA21104, NA20319, NA07051, NA19915, NA20521, NA18943, NA19143, NA20284, NA18967, NA19148, NA19314, NA19390, NA21493, NA18854
Known GenesGHR
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)esv2421813
Frequency
Sample Size1184
Observed Gain0
Observed Loss620
Observed Complex0
Frequencyn/a


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