A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2663037



Internal ID9582456
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:37187206..37187518hg38UCSC Ensembl
chr20:35815609..35815921hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5582120, essv6002264, essv6068445, essv5816979, essv5425879, essv5421765, essv6407511, essv6162697, essv5775987, essv5847731, essv6458099, essv6090781, essv6336647, essv5744757, essv6000976, essv5885906, essv5718665, essv6014820, essv6512578, essv5981834, essv6182881, essv5954954, essv5966330, essv5761624, essv5901479, essv5782561, essv5521655, essv6167547, essv6344068, essv5790193, essv5571445, essv5715930, essv6246910, essv6220005, essv6180110, essv6350143, essv5670910, essv5850309, essv6588357, essv6235398, essv5630498, essv6377732, essv6515808, essv6147117, essv6445305, essv5925548, essv6281628, essv5968979, essv6597190, essv5709178, essv5768278, essv6304994, essv5576806, essv6566325, essv5499347, essv5853738, essv5785293, essv5893730, essv6519186, essv6542911, essv5814598, essv6403533, essv6282717, essv6314985, essv5967579, essv6235542, essv6303219, essv5456193, essv5535121, essv5871532, essv6562592, essv5983839, essv5483412, essv6554365, essv6399807, essv6435386, essv5778367, essv6011508, essv5487692, essv6154987, essv6437264, essv6541380, essv5716144, essv6172805, essv5872912, essv5425051, essv5913160, essv6046026, essv5648880, essv6492711, essv6358447, essv5872462, essv6120652, essv5625107, essv6078458, essv6148739, essv6488465, essv6035077, essv6060173, essv6318924, essv6398897, essv6183019, essv5410697, essv6312999, essv5781323, essv6420928, essv5471449, essv5686273, essv5904885, essv5749429, essv6543159, essv6548200, essv5605667, essv5519055, essv5675621, essv6186226, essv5678534, essv6471748, essv5739300, essv6371832, essv6452485, essv6274083, essv5620486, essv5650140, essv5830104, essv6598366, essv6294603, essv6590925, essv5748511, essv6050854, essv5846524, essv6273523, essv5917310, essv5849314, essv6198961, essv5671077, essv6503250, essv6548924, essv5568390, essv6462146, essv6257114, essv5675548, essv6461669, essv5470719, essv6372298, essv6088532, essv5441000, essv6202598, essv6115187, essv5542307, essv5740272, essv6247097, essv6580208, essv5630285, essv6013944, essv6263342, essv6250590, essv6207438, essv6138128, essv5875484, essv5859490, essv5944448, essv6302692, essv6557604, essv5769947, essv6364700, essv5661591, essv6158748, essv6253179, essv5735754, essv5720850, essv5776382, essv5429440, essv6231716, essv6527385, essv5762869, essv5922823, essv5408079, essv6558525, essv6264566, essv5725036, essv5469573, essv6450381, essv6433148, essv5934780, essv5881042, essv5899403, essv6156823, essv5477956, essv6343221, essv5566567, essv6419594, essv6500647, essv5651700, essv5825107, essv6459865, essv6310005, essv5755710, essv6429553, essv5929742, essv5717206, essv6073200, essv6276007, essv6277792, essv6440738, essv6449095, essv5672361, essv6489517, essv5705466, essv6531223, essv5701045, essv5835902, essv5872099, essv6550079, essv6164016, essv5921582, essv6122368, essv6005410, essv5675819, essv6385290, essv5700357, essv6250496, essv5397888, essv6098644, essv6251139, essv5830855, essv6097915, essv5397742, essv6488814, essv5762866, essv6248321, essv6271999, essv6383466, essv5478550, essv5988437, essv6029257, essv6480763, essv6047056, essv6482496, essv5719885, essv6584285, essv5572205, essv5835754, essv6574977, essv5585808, essv5744226, essv5534764, essv5716014, essv5963389, essv6328665, essv5556452, essv5897431, essv5611596, essv6201928, essv6224470, essv5890114, essv6295363, essv5927698, essv6156610, essv5809380, essv5755124, essv6426169, essv6441940, essv6083714, essv5596988, essv6295523, essv5939741, essv6002238, essv6392176, essv6568728, essv6558357, essv5894330, essv5427375, essv5457173, essv6576994, essv5879211, essv6013914, essv5430329, essv6154335, essv6340986, essv5446541, essv5505759, essv5721194, essv5585040, essv5694118, essv6455321, essv5716155, essv5980164, essv5500217, essv5466319, essv5778462, essv6034630, essv5887822, essv5622134, essv5652634, essv5699471, essv6332282, essv5523338, essv5775499, essv5514807, essv5833272, essv5903766, essv5941781, essv5823314, essv5774667, essv6576573, essv5399318, essv6392969, essv6011740, essv6048213, essv6494846, essv5569756, essv5672029, essv6083244, essv5637615, essv6094725, essv5941560, essv5977495, essv6495549, essv5974914, essv5988884, essv6370023, essv5690753, essv5840163, essv5867698, essv5772779, essv6441655, essv5691828, essv6111311, essv6379010, essv5427469, essv5745179, essv6250950, essv6352041, essv5540855, essv5801503, essv6437279, essv6553903, essv6138171, essv5621776, essv5994929, essv6292428, essv6427279, essv5503378, essv5524483, essv6320292, essv6454730, essv6493116, essv5460641, essv6206769, essv5954472, essv6577333, essv6113783, essv5436097, essv6317901, essv5822433, essv5542212, essv5788873, essv6239674, essv5402949, essv6241592, essv6008004, essv5498507, essv5980498, essv5673522, essv5686971, essv5425459, essv5570515, essv5977784, essv6372283, essv5940833, essv6511537, essv6572845, essv6006274, essv6231868, essv5519513, essv5934988, essv6348919, essv5453843, essv5916792, essv6028045, essv6535381, essv5666363, essv6421348, essv6141251, essv6237567, essv5508264, essv5664205, essv5661408, essv6477441, essv5780899, essv5977426, essv6072878, essv5401018, essv5418044, essv5734781, essv6129614, essv5447049, essv5470112, essv5748143, essv6415334, essv5603632, essv5660254, essv5601195, essv5626453, essv5791907, essv6218988, essv5403576, essv5778391, essv5572321, essv5840839, essv5975526, essv5593625, essv6002406, essv5674057, essv6513829, essv5418905, essv5416615, essv5479969, essv5698406, essv5743403, essv5494282, essv6518993, essv6171675, essv6035956, essv6190731, essv6367680, essv5735455, essv5610195, essv5730420, essv6440990, essv6571536, essv5532336, essv5783960, essv6543291, essv6456975, essv6578832, essv6029611, essv5492047, essv5518629, essv5548792, essv5749485, essv5545101, essv5896885, essv6152883, essv6317261, essv6371946, essv6402972, essv6074224, essv6168781, essv6182228, essv5783093, essv6549013, essv5566644, essv5596430, essv6323380, essv6278762, essv5594517, essv5630191, essv6041994, essv5902065, essv5906508, essv6220336, essv6138298, essv6319809, essv6568407, essv5990615, essv6255573, essv6075630, essv6071054, essv5474976, essv5448744, essv5998402, essv6092539, essv5817273, essv5867225, essv5399015, essv5893656, essv6272115, essv6368048, essv6468411, essv6208360, essv6421381, essv5998369, essv5471483, essv6533847, essv6399967, essv5586462, essv6010539, essv6115023, essv6186990, essv6058678, essv6203897, essv5621620, essv6121025, essv6238263, essv6531520, essv6043281, essv6255586, essv5462161, essv5600450, essv5945652, essv6190925, essv6534906, essv6594082, essv5508776, essv5757741, essv6415129, essv6447378, essv5410997, essv5843221, essv6440975, essv5848083, essv6447428, essv5833002, essv6533220, essv5715734, essv6113327, essv6317461, essv6499622, essv6158399, essv5503459, essv5598324, essv6347075, essv5611034, essv6030580, essv6302115, essv6594177, essv6161518, essv6340912, essv6582463, essv5781493, essv5767152, essv6056966, essv6006889, essv5684340, essv5813820, essv5413090, essv5605087, essv6141886, essv5488659, essv5718631, essv6139684, essv5528763, essv5622052, essv5688768, essv5545001, essv6079633, essv6424331, essv6574751, essv6497000, essv6073086, essv5643294, essv6224026, essv5555408, essv5772656, essv5625279, essv6103539, essv5929875, essv6138264, essv6221165, essv5676877, essv6233148, essv5794408, essv5987179, essv6112783, essv6074513, essv6144443, essv6139172, essv6568556, essv5431911, essv6005429, essv6142602, essv6155728, essv6184633, essv5891511, essv6395099, essv6597511, essv5750207, essv6328600, essv5910353, essv6469860, essv6223485, essv6013739, essv5731966, essv5800858, essv6277789, essv5450109, essv6216545, essv5799032, essv5506816, essv6267390, essv5935308, essv5996788, essv5457265, essv5461966, essv6551562, essv6496530, essv6321899, essv6417357, essv5965539, essv6533543, essv6065176, essv5481520, essv6182006, essv5531974, essv5992673, essv5788879, essv6166118, essv6278789, essv5922821, essv6028271, essv6455309, essv6023063, essv5715172, essv6319901, essv5622480, essv6028285, essv5657239, essv6315686, essv5873448, essv5642298, essv6125226, essv6196562, essv5888771, essv6051976, essv5926252, essv5621902, essv5728917, essv6368175, essv6259728, essv5663614, essv5960014, essv6488358, essv6127696, essv5473797, essv6240841, essv5641322, essv5987967, essv6275368, essv5722545, essv5822993, essv5802545, essv5802401, essv5853337, essv6351297, essv6552816, essv5917553, essv5981118, essv6061749, essv5982771, essv6043244, essv6149202, essv5962156, essv5478830, essv5576306, essv6566199, essv6043038, essv6150828, essv5409107, essv6262845, essv5922982, essv5979741, essv5982527, essv6223640, essv5497681, essv5569713, essv5414809, essv6462574, essv5662177, essv6354129, essv6478146, essv5679505, essv5516346, essv5724820, essv5976730, essv6528008, essv6514937, essv6425365, essv5760892, essv5565075, essv5414288, essv5738385, essv6148261, essv6441520, essv5850454, essv5437443, essv6379617, essv5537329, essv5560489, essv5911392, essv6202539, essv5561651, essv5612341, essv5648958, essv5905342, essv6063912, essv5714190, essv5617151, essv6013344, essv6545213, essv6247437, essv6129677, essv5617295, essv5645160, essv6035457, essv5986475, essv5707177, essv6367588, essv5621275, essv5636650, essv6165537, essv5671502, essv6271252, essv5511150, essv6431586, essv5860606, essv6479224, essv5744744, essv6360882, essv5579186, essv5963388, essv5801204, essv6137845, essv6095591, essv6187093, essv6459510, essv6474960, essv6121346, essv6376686, essv6333458, essv6354279, essv6571293, essv5689552, essv5749971, essv5757729, essv6081466, essv6128545, essv6133827, essv5633374, essv5741463, essv6410101, essv5458710, essv6398066, essv5682835, essv5419938, essv5651444, essv5690904, essv5673679, essv5885369, essv6394554, essv6247423, essv6554139, essv6411741, essv6473382, essv5563259, essv5460728, essv5761877, essv6435751, essv5434762, essv5479500, essv5525757, essv6317634, essv5703539, essv6146222, essv6386325, essv6585618, essv5607578
SamplesHG01357, HG01441, NA19207, NA19248, NA19312, NA12154, HG01440, HG00257, NA18951, NA18530, NA12286, HG00328, NA18523, HG00437, HG00500, HG00112, HG00274, HG00186, HG00464, HG00131, NA20544, NA19311, NA11918, NA19469, NA20346, NA19223, NA19435, HG01079, NA20296, HG00463, NA18516, HG01365, NA19334, HG00189, HG00577, NA19788, NA19331, NA19453, HG01082, NA18953, HG01488, HG00428, NA18947, HG00542, HG00139, NA19144, NA12058, NA18507, HG00683, NA20805, HG00111, HG00334, NA19685, HG00187, HG00404, HG00335, HG01101, NA19257, NA19701, NA20322, NA18505, NA19472, HG00156, HG00353, NA18868, HG00554, HG00158, HG01148, NA20505, NA11919, NA12763, HG01384, NA19239, NA18627, NA19076, HG01375, HG00421, NA12004, NA18635, NA19675, HG00259, NA19443, NA18623, NA19471, HG01048, NA20530, NA18990, HG01124, NA18592, NA19088, NA12273, HG00315, NA12761, NA18956, NA19429, HG00338, NA18959, NA18609, NA19985, NA11831, NA11894, NA12400, NA20520, HG01253, NA18593, HG00243, HG00284, NA19457, HG00343, NA19324, NA19728, NA19190, NA19000, NA19055, HG00306, NA19360, NA19725, HG00267, HG01097, NA19189, HG00233, NA19372, NA20291, HG00732, NA12778, NA19716, NA19102, NA12275, NA18510, HG01170, HG00249, NA11892, HG01351, HG00740, NA20542, HG00534, NA20766, NA18910, HG00377, NA19711, NA18940, NA12890, HG01137, NA19921, HG01190, NA19376, NA19391, NA19116, NA20289, NA20287, HG00118, NA19755, NA19818, HG00654, NA18548, NA11830, HG00144, HG00142, HG01366, NA18924, NA19198, NA18610, NA12045, HG00566, NA11829, NA19130, HG01177, NA19240, HG00119, HG01498, HG00275, NA12717, HG00183, NA19350, NA18908, HG00626, HG01377, HG00702, HG00704, NA18555, NA19779, NA19466, NA18553, HG00327, HG00323, NA20281, NA12827, NA18964, NA12718, HG00313, NA12043, NA19152, NA19445, NA19625, HG00152, HG00734, HG01359, HG01518, NA18861, NA19436, HG00318, NA12750, NA07037, NA19321, NA20522, NA20278, HG01250, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, HG01075, NA18561, NA20506, NA19404, HG00127, HG01055, NA18975, NA07056, NA18874, HG01342, NA20516, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, NA19401, HG00736, NA20508, HG00449, HG00310, NA18550, NA18570, NA19003, HG00261, NA19455, HG01098, NA06989, NA20299, NA12340, NA18948, NA19430, NA19670, NA11931, NA19317, NA12813, HG00117, NA20808, HG01492, NA19451, NA18972, NA20816, NA20529, HG00375, NA20342, HG00326, HG01491, NA18608, NA20778, NA20786, NA19782, HG00270, HG00553, NA19461, HG00190, HG01182, HG00122, NA19210, HG00106, HG00701, NA19834, NA20588, HG01188, HG01204, NA12776, HG01461, NA19648, NA20314, HG00651, NA19678, HG00557, HG00366, NA19108, HG00331, HG00146, NA18965, NA18488, NA19355, NA19780, NA19467, HG01551, NA18873, NA19147, HG00188, NA19776, HG00479, NA19438, NA19654, NA20586, HG00247, HG01133, HG00256, NA18632, NA20770, HG00342, HG00244, HG00266, NA19762, HG00115, HG00154, HG01254, HG00321, HG00339, NA19726, NA19914, NA20761, NA19428, NA20585, NA19383, NA19982, NA12843, NA18624, NA18934, HG00179, HG00250, HG01140, NA18508, NA19054, HG01456, NA19059, NA12282, NA20356, NA20515, NA19652, HG00583, NA12383, NA18566, NA11994, NA19057, NA19660, HG00140, HG00638, NA12155, HG00180, NA18563, NA18618, NA07357, NA19900, NA20504, HG00610, HG00231, HG00372, HG01495, NA20801, HG01047, NA20807, HG00689, NA19396, NA20754, NA18856, HG00141, HG00628, NA19397, HG00330, NA19398, NA19440, NA20541, HG00150, NA19774, NA20765, HG00178, HG00419, NA18547, HG00258, NA12829, NA18976, NA19256, HG01113, HG01136, NA19835, NA20282, NA20336, HG00264, NA19773, NA19658, HG00637, NA18982, HG00254, NA19056, NA19663, NA19679, HG00403, NA12830, HG00357, HG00237, HG00584, NA19316, NA19684, HG00133, HG00114, HG01497, NA12006, NA19213, NA19676, HG00159, NA19377, NA19153, HG00124, NA19785, HG00108, NA18537, NA18620, NA19172, NA19759, NA12892, NA19703, NA20536, HG00268, HG01066, NA19375, NA19393, NA20126, NA19373, NA18498, NA18923, NA18486, HG00559, NA06986, NA18522, NA19238, HG01455, NA20334, NA20344, HG00260, NA19657, NA19713, NA19731, NA20540, HG01073, NA18558, NA18977, NA19098, HG00239, NA19901, HG00273, HG00282, HG00232, HG01176, HG01356, NA18504, NA19704, HG00478, NA18487, NA18564, NA18858, NA18942, HG00116, NA19347, NA20774, NA19332, NA18613, HG00513, NA20582, HG00153, HG00329, HG01070, NA19707, HG00246, NA19131, NA19159, HG01060, NA19382, NA18579, NA19318, NA18974, NA18985, NA19462, HG00589, HG01149, HG00151, NA10851, NA18582, NA20581, NA20534, NA18983, HG00443, HG00181, HG00611, HG01334, NA12749, NA20332, HG00650, NA06984, NA18867, NA19394, NA19403, HG00138, HG00663, NA12156, HG00362, NA18560, NA18989, HG00580, HG01112, NA19719, NA18971, NA19434, HG00311, HG00448, NA19099, NA19446, NA19452, NA20507, NA20513, NA11992, NA12003, NA19064, NA19749, NA19063, NA18917, NA11993, NA12399, NA19399, NA19717, HG00656, NA12842, NA19160, NA19655, NA18571, HG00422, NA19916, HG01251, NA19070, NA19470, HG00367, HG00693, HG01125, HG00251, NA19171, NA20528, NA18532, NA18574, NA18853, HG00442, HG01374, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA20524, NA06994, HG00143, NA19758, HG00336, HG00476, NA19448, NA20502, NA20517, NA20772, HG00272, HG00345, NA19468, NA20538, NA19200, NA19750, HG00278, NA19007, NA20519, NA19456, HG00136, NA18519, NA19065, NA07000, NA12775, NA19439, HG00361, HG01198, NA11881, HG00309, HG00157, NA12489, HG00252, NA18605, NA07347, NA19712, NA18595, NA18616, HG00182, NA19904, NA20527, HG00619, NA18534, HG01353, NA18630, HG00418, NA19819, NA12342, NA19437, NA19114, HG01173, NA11920, HG00171, HG01083, NA20510, NA19209, NA18501, NA18526, NA20535, HG00155, HG00160, NA18545, NA18603, NA19319, HG01197, NA19359, HG00614, HG01051, NA12828, HG00475, HG01174, HG00368, NA19449, HG00148, NA19920, HG01350, NA19379, NA20539, HG00698, NA07051, NA19651, HG00280, HG01134, NA19682, HG00177, NA20798, HG00319, HG00737, HG00253, NA20755, NA12287, NA19761, HG01171, NA18628, NA18949, NA20340, HG00269, HG00592, NA12414, HG01107, HG01550, NA19463, HG00242, HG00346, NA18967, HG00593, NA19390, HG01378, NA19917, NA20811, NA18536, HG01061, NA18617, HG00692, HG01183, NA20127, NA19908, HG00098, HG00149, HG00125, HG01360, NA11995, NA18916, HG00634, HG00276, HG01187, NA12777, NA19700, NA20341, NA12751, HG00373, NA19313, NA19380, HG01437, NA19395, NA19786, NA19080, NA07346, HG01465, NA19129, HG01191, NA19374, HG00640, NA20348, NA19384, HG00325, HG00185, NA20795, NA18968, NA18986, HG00263, NA20753, NA19005, HG00176, NA19119, NA19664, HG00265, HG01069, NA18961, HG00277, HG00103, HG01080, NA19720, NA19328, HG01383, NA20813, NA19789, HG00236, NA19777, HG00120, NA12891, NA20525, NA19138, NA19729, NA20756, HG01095, NA18909, NA19201, NA20518, NA19431, NA19747, HG00608, HG01390, NA12878, NA18614, NA20317, HG00123, HG00285, NA19225, NA12546, NA18499, NA19732, NA19371, NA20543, HG01108, NA19315, NA19756, NA19346, HG00320, HG00690, HG00641, NA19204, HG00473, NA18981, NA18615, HG00671, NA19087, HG00271, NA19661, HG00126, NA19746, HG01354, HG00312
Known GenesRPN2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2663037
Frequency
Sample Size1151
Observed Gain0
Observed Loss768
Observed Complex0
Frequencyn/a


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