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 Variantsessv6392176, essv5902065, essv6013944, essv6196562, essv6527385, essv5904885, essv6068445, essv6255586, essv6441520, essv6034630, essv5822433, essv5682835, essv6190925, essv6455321, essv6571293, essv5788879, essv5879211, essv5524483, essv5871532, essv5755124, essv5728917, essv5992673, essv6533543, essv6111311, essv5872099, essv6318924, essv6112783, essv6340986, essv6282717, essv6594082, essv5701045, essv5403576, essv5974914, essv6259728, essv5975526, essv6257114, essv6488465, essv5675819, essv6028045, essv6005410, essv6002264, essv5760892, essv5421765, essv6171675, essv5897431, essv5413090, essv6129614, essv6156823, essv5555408, essv5688768, essv5849314, essv5676877, essv6398897, essv6235398, essv6006274, essv5980498, essv6095591, essv5506816, essv5671502, essv5620486, essv5505759, essv6041994, essv5724820, essv6427279, essv6310005, essv6478146, essv6350143, essv6150828, essv6578832, essv5740272, essv5477956, essv5981834, essv5645160, essv6585618, essv6074224, essv6328600, essv6251139, essv5781493, essv6061749, essv6574751, essv6385290, essv6421348, essv6237567, essv5830855, essv6548924, essv5598324, essv6274083, essv6083714, essv6462146, essv6208360, essv5767152, essv6410101, essv6122368, essv6167547, essv6184633, essv5782561, essv5540855, essv6367588, essv6074513, essv5399015, essv6201928, essv6411741, essv6395099, essv6425365, essv5846524, essv5694118, essv5689552, essv5621776, essv6351297, essv6156610, essv6553903, essv6372283, essv5929742, essv5809380, essv6248321, essv5425879, essv6461669, essv5605667, essv6588357, essv5867698, essv5867225, essv5622134, essv6065176, essv5917553, essv5503378, essv6183019, essv5718631, essv5458710, essv6154987, essv5466319, essv6127696, essv5648958, essv6317901, essv5717206, essv5499347, essv5519055, essv5650140, essv6203897, essv5568390, essv6094725, essv6548200, essv5657239, essv6456975, essv6220005, essv5749485, essv6512578, essv5561651, essv6421381, essv5963389, essv5603632, essv5471483, essv6148261, essv5987967, essv6435386, essv5721194, essv6321899, essv5698406, essv5744744, essv6424331, essv6247437, essv5890114, essv6129677, essv6263342, essv6014820, essv5816979, essv6010539, essv6437264, essv5670910, essv5715172, essv5457265, essv5755710, essv5987179, essv6138298, essv5534764, essv5780899, essv6035457, essv6223640, essv5745179, essv6558357, essv6046026, essv5431911, essv5905342, essv5891511, essv6231716, essv5778391, essv6223485, essv5833272, essv6535381, essv5453843, essv5621275, essv5977426, essv6292428, essv6172805, essv5945652, essv5481520, essv5607578, essv6336647, essv6028271, essv5718665, essv5705466, essv5521655, essv6496530, essv6319809, essv6543159, essv6415129, essv5673522, essv5582120, essv6584285, essv6340912, essv5776382, essv6469860, essv5625107, essv5483412, essv6459510, essv6238263, essv6458099, essv5748511, essv5596988, essv5888771, essv5965539, essv5684340, essv6554139, essv5925548, essv5651444, essv6272115, essv6166118, essv6278762, essv5570515, essv5954472, essv6415334, essv5636650, essv5548792, essv6220336, essv5715930, essv6250590, essv5887822, essv6566325, essv6368175, essv6513829, essv5446541, essv5571445, essv5998369, essv6235542, essv6142602, essv6247423, essv5847731, essv6343221, essv6572845, essv6503250, essv6514937, essv6072878, essv6247097, essv6147117, essv5939741, essv5675621, essv5479500, essv5962156, essv5457173, essv5926252, essv5560489, essv6323380, essv6216545, essv5414288, essv5545001, essv6264566, essv6073200, essv5565075, essv5418905, essv5427375, essv5401018, essv6402972, essv6471748, essv5982527, essv5800858, essv5537329, essv5998402, essv6440975, essv6302115, essv5873448, essv5532336, essv5725036, essv5460641, essv5979741, essv6187093, essv5744757, essv5430329, essv5596430, essv6568728, essv6576994, essv6497000, essv5927698, essv5675548, essv6144443, essv6317261, essv6462574, essv6312999, essv6141251, essv5941781, essv6302692, essv5425051, essv6550079, essv5790193, essv5642298, essv6295523, essv6551562, essv5500217, essv6180110, essv6394554, essv5508264, essv5977784, essv5963388, essv5823314, essv5531974, essv6182881, essv6433148, essv5719885, essv5556452, essv5934780, essv6161518, essv5778367, essv6332282, essv6255573, essv5690904, essv6314985, essv6419594, essv5988884, essv5673679, essv5497681, essv5661408, essv5916792, essv5622052, essv5487692, essv6239674, essv6078458, essv6449095, essv5913160, essv5518629, essv6566199, essv5990615, essv6000976, essv6028285, essv6328665, essv5859490, essv5894330, essv5498507, essv6445305, essv6158748, essv5707177, essv5585808, essv6083244, essv6005429, essv5762869, essv6576573, essv6051976, essv5976730, essv5896885, essv5716155, essv6275368, essv5456193, essv6013344, essv5830104, essv5750207, essv6060173, essv5494282, essv6048213, essv6568407, essv6452485, essv5469573, essv5917310, essv6008004, essv5893730, essv5881042, essv5840163, essv5772779, essv6582463, essv6128545, essv5853738, essv6253179, essv5462161, essv5448744, essv5630191, essv5966330, essv5910353, essv5652634, essv6383466, essv6333458, essv5748143, essv5940833, essv5872462, essv6348919, essv6002406, essv6186226, essv5397742, essv6224470, essv5860606, essv5622480, essv6152883, essv5593625, essv6029257, essv6063912, essv5437443, essv5934988, essv6315686, essv5783960, essv5471449, essv6186990, essv5781323, essv6352041, essv6429553, essv6088532, essv5922823, essv6541380, essv5899403, essv6379010, essv5788873, essv5418044, essv6519186, essv5703539, essv6435751, essv6011740, essv6488358, essv5843221, essv6198961, essv5572321, essv5434762, essv5944448, essv5576306, essv6420928, essv6379617, essv5817273, essv6543291, essv6515808, essv6407511, essv6377732, essv5679505, essv5429440, essv6240841, essv5664205, essv6500647, essv6303219, essv5720850, essv6552816, essv6372298, essv5774667, essv5601195, essv6358447, essv6454730, essv6233148, essv6392969, essv6558525, essv6518993, essv6137845, essv5416615, essv6002238, essv6534906, essv6482496, essv5967579, essv6154335, essv6138128, essv5479969, essv5460728, essv5678534, essv6050854, essv5893656, essv5850309, essv6120652, essv5579186, essv5473797, essv5835902, essv5775499, essv5674057, essv6182006, essv5545101, essv6344068, essv6231868, essv6224026, essv5734781, essv5569756, essv6103539, essv6098644, essv5749971, essv5794408, essv5572205, essv6597511, essv5738385, essv6376686, essv5853337, essv5785293, essv6202598, essv5996788, essv5621902, essv6557604, essv6013739, essv6368048, essv5994929, essv6533220, essv6056966, essv5749429, essv6047056, essv5757729, essv6594177, essv5801204, essv6360882, essv5761877, essv6568556, essv6440738, essv5885906, essv5666363, essv5977495, essv5903766, essv5671077, essv5921582, essv5402949, essv6164016, essv6113327, essv5744226, essv6092539, essv5672361, essv5594517, essv5441000, essv6580208, essv6403533, essv5419938, essv5922821, essv5813820, essv5612341, essv5982771, essv6399967, essv6317461, essv5778462, essv5691828, essv6441940, essv5960014, essv5954954, essv5425459, essv5814598, essv5741463, essv6531520, essv5503459, essv6139684, essv6597190, essv6029611, essv5408079, essv6499622, essv6182228, essv5662177, essv5983839, essv6276007, essv5772656, essv5663614, essv6371832, essv6115023, essv6278789, essv6477441, essv5447049, essv5761624, essv5700357, essv6138171, essv5651700, essv6545213, essv6367680, essv6133827, essv5801503, essv6075630, essv6079633, essv5461966, essv6148739, essv5492047, essv6577333, essv6468411, essv6386325, essv6511537, essv6030580, essv6273523, essv5633374, essv5661591, essv5566567, essv6207438, essv6246910, essv5802545, essv6480763, essv5743403, essv5848083, essv6262845, essv5605087, essv5709178, essv6304994, essv5716014, essv5835754, essv6158399, essv6141886, essv5617295, essv5735754, essv5630285, essv5586462, essv6011508, essv6473382, essv6437279, essv6138264, essv6271252, essv5528763, essv5637615, essv5542212, essv6139172, essv5569713, essv5563259, essv5799032, essv5630498, essv5929875, essv5686971, essv6370023, essv5715734, essv5625279, essv5610195, essv6542911, essv6531223, essv6023063, essv5611596, essv6319901, essv5436097, essv5525757, essv5762866, essv6043038, essv6013914, essv6494846, essv5690753, essv5399318, essv6206769, essv5783093, essv6440990, essv5519513, essv5906508, essv5514807, essv6058678, essv6043281, essv5410997, essv6221165, essv5427469, essv5397888, essv5648880, essv5822993, essv5626453, essv6146222, essv5885369, essv6168781, essv6121025, essv5941560, essv5410697, essv6441655, essv6250950, essv5488659, essv6149202, essv6125226, essv6399807, essv6281628, essv6528008, essv6113783, essv6121346, essv5699471, essv5611034, essv6081466, essv5825107, essv5981118, essv6202539, essv5600450, essv5768278, essv5840839, essv5735455, essv6554365, essv6431586, essv5775987, essv6598366, essv5911392, essv5672029, essv5643294, essv5641322, essv6371946, essv5478550, essv6571536, essv5980164, essv6447378, essv6493116, essv5769947, essv6241592, essv6320292, essv6035077, essv5470719, essv6488814, essv6317634, essv6426169, essv5714190, essv5576806, essv5757741, essv5968979, essv6165537, essv6277792, essv6190731, essv5474976, essv5986475, essv5660254, essv5523338, essv6006889, essv6364700, essv6271999, essv6347075, essv6155728, essv5872912, essv5722545, essv5686273, essv6090781, essv5414809, essv6277789, essv6549013, essv6294603, essv5409107, essv6562592, essv6354129, essv5850454, essv5516346, essv6073086, essv6295363, essv5585040, essv6267390, essv6455309, essv5935308, essv5542307, essv6590925, essv6574977, essv6398066, essv6043244, essv6115187, essv5988437, essv6495549, essv5922982, essv5621620, essv5731966, essv5901479, essv5739300, essv5508776, essv6474960, essv6450381, essv5875484, essv6035956, essv5478830, essv6489517, essv6459865, essv6218988, essv5511150, essv6417357, essv5802401, essv5450109, essv5716144, essv6479224, essv5535121, essv6354279, essv5791907, essv6071054, essv6447428, essv5470112, essv6162697, essv6533847, essv5566644, essv6492711, essv5730420, essv5833002, essv6250496, essv6097915, essv5617151
SamplesNA20588, HG00189, HG00650, HG00442, NA20529, HG00608, HG00142, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, HG00233, NA12751, HG00153, NA18504, NA19684, NA19377, NA18530, HG01518, HG01461, NA19920, NA12750, NA12813, NA19446, HG00138, NA19171, HG01350, NA19379, HG00589, HG00122, NA19315, NA20798, HG01177, NA19678, NA20756, NA20795, NA18558, NA18547, HG01492, NA18618, NA18916, NA18574, NA11918, NA18582, HG01083, HG01365, NA19384, HG00311, HG00243, NA20291, NA19079, NA18949, HG00158, HG00139, NA19720, HG00335, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, HG00323, NA19985, NA18867, HG01550, NA20515, NA19789, NA20755, NA19921, HG00137, NA12777, NA18951, NA18605, NA20535, NA12489, HG00731, HG00266, NA19070, NA19056, NA12878, HG01095, NA19717, NA19663, HG00344, HG01498, NA12718, NA20519, NA18948, NA18981, HG00692, NA19064, NA18548, NA18537, HG01047, HG01102, HG00690, HG00404, NA12829, HG00331, NA19750, NA19453, NA18532, NA06989, NA19059, HG01334, NA19452, NA19682, NA18523, HG00463, NA19318, NA12778, NA19395, HG00126, NA19625, NA18593, HG01107, NA19729, HG00611, NA19652, NA19440, HG00336, NA19256, NA19712, NA19434, NA18564, NA18628, HG00580, NA19331, NA20520, HG01174, HG00098, NA19470, NA19428, HG00116, NA20281, NA19360, NA12763, NA18615, HG01342, NA19328, HG00614, HG00513, HG00478, NA19785, NA19223, NA19779, HG00267, NA18609, NA19102, NA18873, HG00112, HG00377, HG00274, NA20503, NA18989, NA19129, HG00628, NA18624, NA19065, NA18612, NA19429, NA18487, HG01437, NA19431, NA20772, HG00593, HG00626, HG01060, HG00114, HG01441, NA19648, NA19700, HG00592, NA19055, NA19397, NA18924, NA19466, NA11995, NA18592, HG01359, HG01052, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, HG01374, HG00306, NA20813, NA18603, NA12045, NA19819, NA12004, NA12058, NA20808, NA20346, HG00150, NA20507, NA19190, NA19098, NA18526, NA12400, HG01250, NA19746, NA19660, NA19076, NA18550, HG00251, NA19728, NA18595, HG00702, HG00689, NA18635, NA19916, HG00330, HG00634, NA19131, NA18942, HG00736, HG00610, HG01354, NA20540, NA19313, NA12287, HG00247, NA19054, NA18498, NA20513, NA20336, NA20541, NA12761, HG01134, NA12282, HG00277, NA19651, HG00120, HG00683, HG00106, HG01170, HG00236, NA19719, NA20340, NA19371, NA18560, NA18617, NA19471, HG01176, NA19087, NA19159, HG00182, NA19725, NA19189, HG00637, HG00338, NA19209, NA12828, HG00178, NA18908, HG00419, NA19451, HG00464, HG00108, NA19007, HG01136, HG00188, HG00149, NA18613, NA19657, HG01360, HG00183, HG00176, NA19707, NA20524, HG01384, NA12342, HG00428, NA19462, NA19347, NA20536, NA19391, HG00475, NA19982, HG00584, HG00500, NA19788, NA18910, NA18976, NA20770, NA20344, NA19776, NA19000, NA19655, HG00373, HG01197, NA18499, HG01383, NA12892, HG01182, NA18853, NA20282, NA19225, NA19756, HG00141, NA19160, NA18536, NA20542, NA20296, NA19685, NA19401, HG00476, NA20801, HG00119, NA11881, NA19834, NA19108, NA12775, NA19749, HG00375, NA19732, HG01253, HG00136, HG00638, NA07051, NA20504, NA19786, HG00319, HG01108, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, NA19248, HG00312, NA19438, NA20582, NA19472, HG00329, NA12749, NA19713, NA12830, NA20807, NA19726, NA18972, HG00343, HG00372, HG00252, HG01377, NA07056, NA18505, NA20322, HG00345, HG01097, HG01191, HG00437, NA19153, NA19394, NA12383, NA19701, NA20761, HG00542, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA20766, NA12286, NA20508, HG00671, HG00242, NA19204, NA18861, NA18508, NA10851, HG00559, NA12273, HG01066, HG00315, NA20816, HG00244, NA19350, HG00181, NA19359, NA19355, NA12340, NA20332, NA18959, HG00737, HG00115, NA18616, HG00449, NA20517, HG00654, NA19443, HG01051, NA20356, HG00261, NA18510, NA12399, HG00693, NA18627, HG00271, HG00663, NA07346, NA18563, HG00641, NA19373, NA18940, NA18519, HG00272, NA19319, HG01351, NA20774, NA18923, NA07347, NA19457, NA18571, HG00334, NA20287, HG00185, NA19904, NA19130, NA20539, NA12275, HG01069, HG01080, NA20518, NA20278, HG00148, NA12156, HG00156, HG00325, HG00232, NA19372, NA11994, HG00534, NA19207, HG00160, HG00118, NA18990, HG01198, HG01048, HG01133, NA20342, NA20127, HG00253, NA20753, HG01124, HG00154, NA19908, HG00443, HG00268, HG01171, HG00282, NA19670, NA19403, HG00557, HG00245, HG00732, HG00368, NA19455, NA20314, HG00583, HG00263, HG00275, NA18579, HG01149, NA18534, HG00239, HG00740, NA20525, NA19654, HG00284, NA19461, NA11919, HG00651, HG00250, HG00479, NA20581, HG01101, HG00140, NA18553, HG01497, NA19099, HG00144, NA19761, NA18555, HG00152, HG00146, HG00704, NA19469, HG00246, NA18570, NA18858, NA12546, HG01075, NA18974, NA12043, NA18953, HG01148, NA19375, NA19003, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, NA19747, HG00353, HG01551, HG00734, HG01357, NA20530, NA20527, HG01375, NA19835, HG00473, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, HG01137, NA19783, HG00418, NA18610, HG01489, HG00339, NA18501, NA06994, HG00259, HG00342, NA19716, NA19468, NA20510, NA20289, HG00310, NA20786, HG00280, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA20502, NA19430, NA11892, NA19316, NA19312, HG01125, HG00171, NA18968, NA12890, NA12006, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, HG00553, NA19676, NA18620, HG00403, NA11830, HG01098, HG01356, NA20543, HG00231, HG00249, NA11829, HG00361, NA19914, HG00187, NA19332, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA20805, NA19777, NA19057, HG01456, HG00566, HG00179, HG00177, NA12155, NA07357, HG01140, HG00327, NA18967, NA19374, NA19396, HG00127, NA19381, NA19005, HG01366, HG01070, NA19201, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA19119, NA18982, NA19198, NA20317, NA12891, NA11992, HG00346, NA19088, NA19138, HG00369, HG00270, NA19782, NA18964, NA19404, HG01455, NA19383, NA18874, NA06984, NA18977, HG01495, NA19917, HG01072, NA19731, HG00422, NA19317, NA18986, HG01440, HG00309, NA20811, NA19901, HG00159, NA19456, NA19445, NA18975, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, HG01353, HG00313, HG00133, HG01183, NA19210, NA19437, HG01187, NA18934, HG00596, HG00328, NA20505, NA12003, NA19152, HG00190, HG00577, NA18956, HG00701, NA18516, HG00320, NA20506, NA20126, NA19658, NA18630, HG00619, HG01390, NA18566, HG01073, HG00273, NA19114, NA20299, NA19774, NA19449, NA11894, NA20538, NA18856, HG00117, HG00321, HG00157, NA12827, NA19257, HG00276, NA20534, NA19675, HG01204, NA19436, NA20765, NA18608, HG00124, NA20522, NA18909, HG01190, HG00285, NA19321, NA18961, HG00366, HG00357, NA19435, NA19240, HG00278, NA19773, NA19380, NA19144, NA20785, NA19334, NA19439, NA19467, NA20516, NA07037, NA06986, HG00269, NA19398, HG00111, NA20348, NA18971, HG01491, HG00421, HG00656, NA20334, HG01254, HG01055, HG00123, HG00186, HG00698, HG00131, NA19213, NA20528, HG01251, NA19661, HG01378, NA19755, NA18488, HG01082, NA19758, NA07000, NA18522, HG01112, HG00554, HG00180, HG01061, HG00362, NA12776, NA18965
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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