A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661611



Internal ID9581030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:22897652..22897930hg38UCSC Ensembl
chr16:22908973..22909251hg19UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38279
hg19279
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6472609, essv5504786, essv5709943, essv5440418, essv6534671, essv6358229, essv6399136, essv6222227, essv6213772, essv6050986, essv5879495, essv5951446, essv6113821, essv5499628, essv5866058, essv6226865, essv5515893, essv6539909, essv5801145, essv5806180, essv6404127, essv6276306, essv6436482, essv5754755, essv5837672, essv5949954, essv6199310, essv6018414, essv6354413, essv5737796, essv6145745, essv5864218, essv5967401, essv5519424, essv5722357, essv5597798, essv6008936, essv6489484, essv6056650, essv6494450, essv6234821, essv5831116, essv6053266, essv6423334, essv5911115, essv5635011, essv5692283, essv6510594, essv5931443, essv6047648, essv6314227, essv6515729, essv6476057, essv6003130, essv5644597, essv6417877, essv6148361, essv5455531, essv6283058, essv5512224, essv5877738, essv5894657, essv6267923, essv5409544, essv6396261, essv6354255, essv6170301, essv5958048, essv6145036, essv6583005, essv6237942, essv6398548, essv6213689, essv6370384, essv6329986, essv5506264, essv5921703, essv6461268, essv5417420, essv5993341, essv6330666, essv5597642, essv6535300, essv6098107, essv6572826, essv5706962, essv6290208, essv5555451, essv6354807, essv5996810, essv5453268, essv5886914, essv5967269, essv6010607, essv5454202, essv5466808, essv6000596, essv5973561, essv6154552, essv5436609, essv5872457, essv6413134, essv6272963, essv5429359, essv5855578, essv5663820, essv5695155, essv6582352, essv6308954, essv6458547, essv5565420, essv5961412, essv6235008, essv5536639, essv6269894, essv5685250, essv5789978, essv5642401, essv5974360, essv5471997, essv6434715, essv6456707, essv6295584, essv6321190, essv5976060, essv5768092, essv5976062, essv5711468, essv5604582, essv5899133, essv6208769, essv5997313, essv5661065, essv6479503, essv6103070, essv5952484, essv6469572, essv5707803, essv6532704, essv5960334, essv5795959, essv6492430, essv6380199, essv5813992, essv6160923, essv6549594, essv5482338, essv5573905, essv5820100, essv6043464, essv5529663, essv5538722, essv5618669, essv6214841, essv5936756, essv5465138, essv6541579, essv6312887, essv5821085, essv6099490, essv5551431, essv6277676, essv6127537, essv6221061, essv5973459, essv6195824, essv6013654, essv5631434, essv6116036, essv6557934, essv6166613, essv6563502, essv6299457, essv6310294, essv5639209, essv6466480, essv6056352, essv5840459, essv6410766, essv5483836, essv5854252, essv6520192, essv5890270, essv5753237, essv6569004, essv5767252, essv5966780, essv5752340, essv6163093, essv5533879, essv5649501, essv5676868, essv5401705, essv5833563, essv6181713, essv5861086, essv6317753, essv5598877, essv6572240, essv5779636, essv5712208, essv5937482, essv6409873, essv6014775, essv5886235, essv5844496, essv5498757, essv5486050, essv6416996, essv6449460, essv5800311, essv6565690, essv5673431, essv5972117, essv6554250, essv5466123, essv5999755, essv5455041, essv6596602, essv5704024, essv5519664, essv6388607, essv5506656, essv5424332, essv5730683, essv6181525, essv5684558, essv6175090, essv5618984, essv6361313, essv5947342, essv6263729, essv5493704, essv5844569, essv5901269, essv5665251, essv5565611, essv5916887, essv6080051, essv6453913, essv5708741, essv5853559, essv5982602, essv5819285, essv6480665, essv6373677, essv6079057, essv6178593, essv6415500, essv6051580, essv6098685, essv6329791, essv5679075, essv6187948, essv6117079, essv5584433, essv6179312, essv5950104, essv6285540, essv5613026, essv6205715, essv5431368, essv6425128, essv6251463, essv6174244, essv5605693, essv6127665, essv6215720, essv5819969, essv6571452, essv6448581, essv6243710, essv5829737, essv5635170, essv5956904, essv5994997, essv5575729, essv5486662, essv6345234, essv5677153, essv6228686, essv6401137, essv6333256, essv5634197, essv5672838, essv6184168, essv5718560, essv6289327, essv5586404, essv6099894, essv6267963, essv6037411, essv5473681, essv6552700, essv6273919, essv6476790, essv6520957, essv5727753, essv5756740, essv6217796, essv5537047, essv6479419, essv6244115, essv6418101, essv6376171, essv5587434, essv5792129, essv5449809, essv5941386, essv6223781, essv5602038, essv5409839, essv5716727, essv6525185, essv5713953, essv5853718, essv6437090, essv6251020, essv5510825, essv5658180, essv6247566, essv5969624, essv5691559, essv5726524, essv6085734, essv6082676, essv5406992, essv5832928, essv6158541, essv5630651, essv6516626, essv5555886, essv6086423, essv5751651, essv6225141, essv6096277, essv6357396, essv6105928, essv5821331, essv5654009, essv5658929, essv5578336, essv6145811, essv5543704, essv6058877, essv6190123, essv5603382, essv5450096, essv6372491, essv6177355, essv5425637, essv6481496, essv6331434, essv5734621, essv5896480, essv6527010, essv6098215, essv5576276, essv6062541, essv6094478, essv6100544, essv6451059, essv6515482, essv5711146, essv5792053, essv6273166, essv5418636, essv5436173, essv6491039, essv6480317, essv6320460, essv5974169, essv6028692, essv5565757, essv6243901, essv5913479, essv5495202, essv6309116, essv6385811, essv6079354, essv5773820, essv5617214, essv5848599, essv5399955, essv5432973, essv6256401, essv6524738, essv6594126, essv6056758, essv6565834, essv5978551, essv5748628, essv5703432, essv5609710, essv5743482, essv5864895, essv6041632, essv6340720, essv5579860, essv5852924, essv6500726, essv5563401, essv5624311, essv5763408, essv5627490, essv5901935, essv6116057, essv5849859, essv6539233, essv5689793, essv6299044, essv6424263, essv6123357, essv6564879, essv6347494, essv5473522, essv6545161, essv5780452, essv6384460, essv5979425, essv6531843, essv5443527, essv5866160, essv5435490, essv5910332, essv6266407, essv6028257, essv5486957, essv5929419, essv6028523, essv6139206, essv6145940, essv5744055, essv5457128, essv6137869, essv5829203, essv6125181, essv5560781, essv6027005, essv6117146, essv5580893, essv6477317, essv5442239, essv5779296, essv5674982, essv6346919, essv5416112, essv5761283, essv5952285, essv6584679, essv6074171, essv5992257, essv5780089, essv6360147, essv6269279, essv5822149, essv5993910, essv5996476, essv5460394, essv6466662, essv6465608, essv6180115, essv6456593, essv5470261, essv6198492, essv6409827, essv5447299, essv6307845, essv6316778, essv5517742, essv5589275, essv5531135, essv5702333, essv5664728, essv6347612, essv5690550, essv6259554, essv6118918, essv5902800, essv6077614, essv5743861, essv5852442, essv5447338, essv5867703, essv5654042, essv6124933, essv6226216, essv5800210, essv6505800, essv6413934, essv6544802, essv5817292, essv6211576, essv6565046, essv6086255, essv6233670, essv6592138, essv5940211, essv5722765, essv5733290, essv5502972, essv5572547, essv5922518, essv6467531, essv5709106, essv5407155, essv5824164, essv6541749, essv5591023, essv5527519, essv5686783, essv6195277, essv6134131, essv5889683, essv5692828, essv6443503, essv6260221, essv6091335, essv5941893, essv6035197, essv6309991, essv6103388, essv5652478, essv5665291, essv6138699, essv5670622, essv5552366, essv5988029, essv6332636, essv6559385, essv6290947, essv6328995, essv6552594, essv5438943, essv5616727, essv5950578, essv5909509, essv5498177, essv5457528, essv5719774, essv5444271, essv5587523, essv5464242, essv6125076, essv6059019, essv5811464, essv6589681, essv6176048, essv5623847, essv6344570, essv5971893, essv6123271, essv5920278, essv5937257, essv5453202, essv5659412, essv6348365, essv5928350, essv5974666, essv6106876, essv5573563, essv6178156, essv6310176, essv5403625, essv5913882, essv6495038, essv5973074, essv5541315, essv5806314, essv5823078, essv6558349, essv6536822, essv6466271, essv6538744, essv5800262, essv6151134, essv6179261, essv5473909, essv5530692, essv5675813, essv5589688, essv5566039, essv6465814, essv6054241, essv5764856, essv5860822, essv5808569, essv6529303, essv6539829, essv5617947, essv5770755, essv5659338, essv6301307, essv6242113, essv6020640, essv6473324, essv6042550, essv6415538, essv6235952, essv6253922, essv6157460, essv6292109, essv5863968, essv5854045, essv6261833, essv6520801, essv6074625, essv6160823, essv5583273, essv5843274, essv5718616, essv6528542, essv6283678, essv6126470, essv6386638, essv6442719, essv5577096, essv5615149, essv5469844, essv6079405, essv6002769, essv5404518, essv6066947, essv5649898, essv5542494, essv6075006, essv5865248, essv6487050, essv5907005, essv5595300, essv6201921, essv6225665, essv6241500, essv6110086, essv6414967, essv5922200, essv6234058, essv6034790, essv6298699, essv5908436, essv6233925, essv5884472, essv5916195, essv5409775, essv5641743, essv5989595, essv5839434, essv6014352, essv6453058, essv6305109, essv5550676, essv5640509, essv5491916, essv5791693, essv5946556, essv6174283, essv6382412, essv5563390, essv5420504, essv6144628, essv5637302, essv5949582, essv6565867, essv6247118, essv6162781, essv5726155, essv5584445, essv5647929, essv6251931, essv5699703, essv6287009, essv6382143, essv6212871, essv6490790, essv6309035, essv6387286, essv5707047, essv5503252, essv5865812, essv5599610, essv5577427, essv5936263, essv6314297, essv6266922, essv5828387, essv6483144, essv6420930, essv6532841, essv5943703, essv6007829, essv5587691, essv6156573, essv5464371, essv5694248, essv5882732, essv6271867, essv5559378, essv6573271, essv5771559, essv6026097, essv6511885, essv5783274, essv5590172, essv6213372, essv5640228, essv6415945, essv5426652, essv6426555, essv6254617, essv5985030, essv5810829, essv5653592, essv5883987, essv6094226, essv5771330, essv5612833, essv5884801, essv5841446, essv6013231, essv5562695, essv6208392, essv5994566, essv6489292, essv5561613, essv6131387, essv5844521, essv6377439, essv6292364, essv5463070, essv6204221, essv6326371, essv5548313, essv5655955, essv5775305, essv5860121, essv5966599, essv5473656, essv5474668, essv5754808, essv5435254, essv5610178, essv6100425, essv5560314, essv5446818, essv6436980, essv6423804, essv5479971, essv5871029, essv5824415, essv5947449, essv6288223, essv5819037, essv5914422, essv5833475, essv5496777, essv6217606, essv5959963, essv6581788, essv5675023, essv5700177, essv6040098, essv5458567, essv6202177, essv6464637, essv6101433, essv5791296, essv5447002, essv5563078, essv5763025, essv6349454, essv6136198, essv5916900, essv6000355, essv6544846, essv6386930, essv5600575, essv5797721, essv5645332, essv6442466, essv5865821, essv5462046, essv6458395, essv6314446, essv6138325, essv5901214, essv5544574, essv6046283, essv5574210, essv5513291
SamplesHG01357, HG00613, HG01441, HG00380, NA19207, NA18870, NA19248, NA19312, NA12154, HG01440, NA18951, NA18530, NA18535, NA18871, NA12286, NA19081, HG00551, HG00328, NA18523, HG00705, HG00437, HG00500, HG00112, HG00274, HG00464, NA19093, HG00131, HG00565, NA19311, NA11918, NA19469, NA20346, NA19223, HG01079, HG01389, HG00463, NA18516, HG01365, NA19334, HG00577, NA19788, NA19453, HG01082, NA18953, HG00428, NA18947, HG00542, HG00139, HG00739, NA18541, NA19144, NA18546, HG01167, NA18507, HG00683, NA20805, HG00334, HG00581, HG00404, HG00335, HG01101, NA19257, NA19701, NA19236, NA20322, NA18505, NA19472, NA18950, HG00353, NA18868, HG00554, HG00158, HG00556, HG01148, NA20505, NA11919, NA12763, HG01384, NA19239, NA18627, NA19076, HG00421, NA18635, HG00259, NA19197, NA19443, NA18623, NA19471, HG01048, NA19107, NA19444, NA18990, NA18636, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, NA18956, HG00338, NA18959, HG00533, NA18609, NA19985, NA11831, NA11894, NA12400, NA18637, NA20520, HG01253, NA18593, HG00243, HG00284, NA19457, NA12234, HG00343, NA12144, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, HG00306, NA19360, NA19725, HG00267, NA19189, HG00233, NA19372, HG01516, NA18633, NA20291, HG00653, NA12348, NA19716, NA19102, NA12275, NA18510, NA19002, HG01170, HG00249, HG01351, HG00740, HG01494, HG00534, HG00525, NA18910, NA18940, NA18619, NA18987, NA12890, HG00427, HG01137, NA19921, HG01190, NA19376, NA19391, NA19723, NA19009, NA19116, NA18631, NA20289, NA20287, HG00118, NA19755, NA19818, HG00654, NA18548, NA11830, NA20810, HG00144, NA18944, HG00142, HG01366, HG00708, NA19198, NA18610, NA20758, NA12045, NA11932, HG00566, NA11829, NA19130, HG01177, NA19240, HG00119, HG01498, HG00275, HG00625, HG00183, NA19350, NA18908, NA20806, HG00626, HG01377, HG00702, HG00704, NA18555, NA19385, NA19779, NA19466, NA18553, HG00327, HG00323, NA20281, NA19137, NA12827, NA18964, NA19445, HG00734, HG01359, NA18861, HG00318, HG00607, NA11930, NA07037, NA19321, HG01250, HG00344, HG01072, HG01052, HG00100, HG01075, NA18561, NA18933, NA19404, HG00127, HG01055, NA18952, NA18975, NA18874, HG01342, NA20516, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, NA19401, NA20508, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, HG00261, HG00707, NA18511, NA19455, NA06989, NA20294, NA18948, NA19430, NA19670, HG00117, NA20808, HG01492, NA19451, NA18972, NA19010, HG00375, NA19338, NA20342, HG00173, HG01491, NA18573, NA18608, NA20786, NA18542, NA19782, NA19461, HG00122, NA19210, HG00106, HG00701, NA19834, NA20588, HG01188, HG01204, HG01461, NA20314, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, NA11893, NA19108, HG00331, HG00146, NA18965, NA18488, NA19355, NA19474, NA19084, NA19780, NA12341, NA19467, HG01551, NA18873, NA19147, HG00188, NA18626, NA19776, HG00479, NA19438, NA19654, NA20586, HG00247, HG01133, HG01521, HG00256, NA18632, NA20770, HG00342, HG00244, HG00635, NA19762, NA20532, HG00115, HG00543, HG00154, NA18559, HG00321, HG00339, NA20761, NA19067, NA19428, NA20585, NA18912, NA19982, NA20533, NA18624, NA18934, HG00179, NA18508, NA19054, HG01456, NA12282, NA20356, NA20515, HG00472, NA19652, HG00583, NA12383, NA18566, HG00337, NA11994, NA19057, NA19068, NA19660, HG00140, HG00638, NA12155, NA18576, NA18960, NA18563, NA18618, NA07357, NA19900, NA20504, NA19722, HG00610, NA18991, HG01047, NA20807, HG00689, NA19396, NA20754, NA18856, HG00628, NA19397, HG00330, NA18638, NA19398, NA19440, NA19066, NA11933, NA20541, HG00150, NA19774, NA20765, HG00178, NA18547, HG00258, NA12829, NA18976, NA19256, HG01113, HG01136, NA18973, NA19835, NA20282, NA19658, HG00637, NA18982, NA19056, NA19663, HG00403, NA18634, NA20589, HG00237, HG00584, NA19684, HG00133, NA18539, HG01497, NA12006, NA19213, NA19676, HG00436, HG00159, HG00620, NA19153, NA12046, NA19785, NA18537, NA18620, NA19172, NA19759, NA18572, NA19703, HG01066, NA19375, NA19393, NA20126, NA19373, HG00629, NA18498, NA18923, NA20826, NA18486, HG00559, NA06986, NA18522, NA19238, HG01455, NA20334, NA20344, HG00260, NA18502, NA19657, HG00560, NA19713, NA19731, NA20540, HG01073, NA18558, NA18977, NA19098, NA18941, NA19901, HG00282, HG00232, HG01356, NA18504, NA19704, NA20814, NA20818, HG00478, NA18487, NA18564, NA18942, HG00116, NA19347, NA20774, NA20828, NA19332, NA18613, HG00513, NA20582, NA18988, HG00153, HG00512, HG01070, NA19707, HG00246, NA18562, NA19074, NA19159, NA19382, NA18579, NA18974, NA18985, NA19462, NA18945, HG01149, NA18606, NA18543, HG00151, NA10851, NA18582, NA18999, NA20537, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, NA18907, HG00181, NA18567, NA19078, HG00611, HG01334, NA20332, HG00650, NA06984, NA18867, NA19394, NA19403, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, NA18989, HG00580, HG01112, NA19719, NA18971, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, NA19452, NA20507, NA18533, NA11992, NA12003, NA19064, NA19770, NA19749, HG00281, NA19063, NA19327, NA18917, NA12399, NA19399, NA19717, HG00656, NA12842, NA19160, NA19655, NA18571, HG00422, HG01251, NA19070, NA18984, HG00693, NA18611, HG01125, HG00251, NA19171, HG00324, NA20528, NA18532, NA18574, NA18853, HG00442, HG01374, HG00137, HG01462, HG01489, NA19079, NA19381, NA19473, HG00684, HG00143, NA19758, HG00336, HG00476, NA19448, HG00272, HG00345, NA19092, NA19468, NA20538, NA19200, NA19750, HG00278, NA19007, NA20519, NA19456, NA18519, NA19065, NA07000, NA12775, NA19058, NA18980, HG01067, HG00361, HG01198, NA19012, NA18621, HG00537, HG00252, NA18605, NA19712, NA18520, NA18595, NA18616, NA19904, NA20527, HG00619, NA18534, HG01353, HG00418, NA19819, NA19437, NA19114, HG01173, NA11920, HG00171, NA20510, NA18501, NA18526, NA20535, HG00155, NA20531, NA18545, NA18603, NA19319, HG01197, HG00657, NA19359, HG00614, HG01051, NA12828, HG00475, NA19449, HG00148, NA19920, HG01350, NA18489, NA19379, NA20539, HG00698, NA18963, NA07051, HG00280, HG01168, HG00177, HG00737, HG00253, HG00699, NA18557, NA18943, NA19761, HG01171, NA18596, NA18628, NA18949, HG00269, HG00592, NA12414, NA19077, HG01107, NA19062, NA19463, HG00242, NA19085, HG00346, HG00593, NA19390, HG01378, NA19917, NA20811, NA18536, NA18622, HG01061, NA18617, HG00692, NA20127, NA19908, HG00149, HG00125, HG01360, NA19075, NA11995, NA18916, HG00634, HG00276, HG01187, NA12777, NA19700, NA19082, NA20341, NA12751, HG00373, NA19247, NA19380, HG01111, NA19786, NA19080, NA07346, HG01465, NA19129, NA19771, NA19374, NA20348, NA19384, HG00325, HG00185, NA18968, NA18986, NA20753, NA19005, HG00176, NA19664, HG00265, HG00501, HG00672, HG01069, NA18961, HG00277, HG01080, NA20797, HG00524, NA19720, NA19328, HG01383, NA20813, NA19789, NA19777, HG00120, NA19235, NA12891, NA18597, NA19138, NA20756, HG01095, NA18909, NA18538, NA20518, NA19431, NA19747, NA18544, HG00608, HG01390, NA12878, NA18614, HG00530, NA20317, HG00123, HG00285, NA19225, NA12546, NA18499, NA19732, NA19371, NA20543, HG01108, NA19315, NA20792, NA19756, NA19346, HG00320, HG00690, HG00473, NA18981, NA18615, HG00671, NA19087, HG00271, NA19661, HG00126, NA19746, HG00531, HG01354, HG01515, HG00313, NA12249, NA19436, HG00536, NA12750, NA12748, NA20522, NA20503
Known GenesHS3ST2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661611
Frequency
Sample Size1151
Observed Gain0
Observed Loss789
Observed Complex0
Frequencyn/a


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