A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670764



Internal ID9590183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199447732..199447956hg38UCSC Ensembl
chr2:200312455..200312679hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38225
hg19225
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5840660, essv5602655, essv5533673, essv6240316, essv5788328, essv6213799, essv5814539, essv6482731, essv6556608, essv5963902, essv6414160, essv5907619, essv5660767, essv6245756, essv6336343, essv5865974, essv6468605, essv6072918, essv5997928, essv5594248, essv5784339, essv5852979, essv5850245, essv5695245, essv6147466, essv6598101, essv5419051, essv6196924, essv6441386, essv5502151, essv6492197, essv6518327, essv5944936, essv6095063, essv6325789, essv5614908, essv6003011, essv6298657, essv6202278, essv5826948, essv6256424, essv6277825, essv5512328, essv5904133, essv6075072, essv6379051, essv5922254, essv6556778, essv5757645, essv6082502, essv6564901, essv5869920, essv6429000, essv5548912, essv5975193, essv6031816, essv6523917, essv6304868, essv5423940, essv5902284, essv5996010, essv6320078, essv5938992, essv5977512, essv6213127, essv6215158, essv5395992, essv5769847, essv5437485, essv5418897, essv6011317, essv6325198, essv6363683, essv6512511, essv6537987, essv6341123, essv5461510, essv5679312, essv6474029, essv5923216, essv5568181, essv6179536, essv6205628, essv6550699, essv5817380, essv6004378, essv6418603, essv5918167, essv5901898, essv6321112, essv5654189, essv6384351, essv5738361, essv5978005, essv6172347, essv5410640, essv6077099, essv5512026, essv6016737, essv6064991, essv5853963, essv6400059, essv5407543, essv6186844, essv6472843, essv6095471, essv5653766, essv6347135, essv5594588, essv5854366, essv5664163, essv6454094, essv6492659, essv5588461, essv6133935, essv6184162, essv6310809, essv6466342, essv6539876, essv5480683, essv6236676, essv6361344, essv6216263, essv5794082, essv5889469, essv6033064, essv5752836, essv5413956, essv5909723, essv5843741, essv5977412, essv6130042, essv6124346, essv6255383, essv5760141, essv6343644, essv5866481, essv5764763, essv6085264, essv6161252, essv6424495, essv5626285, essv5558140, essv5399110, essv5937701, essv6132874, essv5408185, essv5624416, essv6009260, essv6032666, essv6318523, essv6461924, essv5469246, essv6063973, essv6572512, essv5973743, essv5985998, essv6469776, essv5783761, essv6551353, essv5945773, essv6377876, essv6009299, essv5521444, essv5653361, essv6001459, essv6416191, essv5441751, essv5432010, essv5698116, essv5642088, essv5437867, essv5490128, essv5778891, essv6211656, essv6533346, essv6116301, essv5720361, essv5809256, essv6557665, essv6385786, essv6448446, essv6573445, essv6112851, essv5747785, essv5835740, essv6067068, essv6286536, essv6437486, essv5810081, essv6071979, essv5838325, essv5480981, essv5604236, essv6420174, essv6566526, essv5623447, essv5910252, essv5877532, essv5533364, essv6101510, essv6446449, essv6281998, essv6077478, essv6305655, essv6343924, essv5553977, essv5568611, essv5552783, essv5899061, essv5946148, essv5455753, essv5902981, essv6312075, essv5810578, essv5905466, essv6021101, essv6223502, essv6019588, essv6195658, essv6450542, essv6171825, essv5519163, essv6328807, essv5716282, essv6300764, essv6420635, essv5573632, essv6421805, essv5877530, essv6522821, essv5846120, essv5600193, essv5941255, essv6174886, essv5801856, essv5923421, essv5811649, essv6231779, essv6181539, essv6267830, essv6116427, essv6122878, essv6307224, essv6488164, essv6504048, essv5566519, essv6194345, essv6196450, essv6201937, essv5560354, essv6021266, essv6251301, essv6010047, essv5889382, essv6019310, essv6135585, essv6034990, essv6493471, essv5685466, essv5750232, essv6191589, essv5630855, essv6072014, essv5518879, essv5834137, essv5998201, essv6445059, essv5456657, essv5655446, essv6407330, essv6482095, essv6278577, essv5410746, essv5568552, essv5634780, essv5997075, essv6526329, essv5861168, essv6105714, essv6086646, essv6174291, essv5659988, essv6178235, essv6560823, essv5853573, essv5896386, essv6216414, essv5409236, essv6204386, essv5885120, essv5949322, essv6489352, essv6024209, essv6463644, essv5614379, essv6356258, essv6442814, essv5428708, essv6197776, essv5762147, essv6045976, essv6078785, essv5565507, essv5810646, essv6562564, essv5754736, essv5859506, essv6223888, essv5595914, essv5960421, essv6078543, essv6137834, essv5630549, essv6454329, essv6082653, essv6410276, essv6061280, essv6378064, essv5550911, essv5735377, essv5981767, essv6478555, essv5462935, essv5681577, essv5930413, essv6049476, essv6156060, essv6062566, essv6178694, essv5879767, essv6132931, essv5519566, essv5611292, essv5631533, essv5440052, essv5681703, essv6007283, essv5768338, essv6579736, essv5761858, essv6587493, essv5720673, essv6548666, essv6156352, essv6115739, essv6156735, essv5652200, essv5783171, essv5862969, essv6402231, essv6431490, essv5509968, essv5611606, essv6376357, essv5439928, essv6107154, essv6243446, essv6525179, essv6473942, essv5830952, essv6381886, essv6527971, essv5643017, essv5719470, essv6362446, essv6050710, essv5988105, essv6243418, essv5785761, essv6316836, essv6205599, essv5770738, essv6080137, essv6059610, essv6524428, essv5580740, essv5935341, essv6089431, essv5582182, essv6406101, essv6558491, essv6241000, essv6220465, essv6379779, essv5729669, essv5511112, essv5832728, essv6134608, essv6250853, essv5467015, essv5512712, essv6333760, essv5635629, essv6107335, essv6466828, essv5694165, essv6046790, essv6114929, essv6413589, essv5653191, essv5943888, essv5410795, essv5875843, essv5925459, essv5467888, essv5949011, essv5486330, essv6257729, essv5800919, essv5787642, essv6526249, essv5534384, essv6145979, essv5567336, essv5623448, essv6194642, essv6584636, essv5972020, essv6460602, essv5877228, essv6218019, essv6147586, essv6469042, essv5464131, essv5836914, essv6527358, essv5729266, essv6083278, essv5891141, essv5905352, essv6193858, essv5583761, essv6124926, essv6094601, essv6469365, essv5483972, essv5751768, essv5530264, essv6353817, essv5878338, essv5882772, essv6244835, essv5605262, essv5716679, essv6135226, essv6408209, essv6471361, essv6110006, essv5885444, essv5945470, essv6216220, essv5814401, essv5969143, essv6206952, essv6470011, essv6422934, essv6351492, essv6377951, essv6453314, essv5867952, essv6286790, essv5880167, essv6057041, essv5409080, essv6535375, essv5688422, essv5755600, essv6147604, essv6388884, essv6528710, essv5864553, essv5859729, essv5864363, essv5762046, essv5992587, essv6479593, essv5726416, essv6021287, essv6595751, essv5578417, essv5617808, essv6524731, essv5931931, essv5728990, essv6155159, essv5745042, essv5562327, essv5736187, essv6439975, essv5799206, essv5783790, essv5955350, essv5981486, essv6269438, essv6525711, essv5819981, essv5902898, essv5994555, essv6193814, essv6494402, essv6185218, essv6209720, essv5882820, essv6095491, essv6126524, essv6060945, essv6206118, essv6170313, essv6282689, essv6506736, essv5636083, essv5807645, essv5841095, essv6257892, essv6375689, essv6425033, essv6432651, essv5449780, essv6585966, essv6054000, essv5820095, essv5909688, essv6085881, essv6193821, essv5590245, essv6587669, essv5961179, essv6255558, essv5759593, essv6045256, essv5441352, essv5849656, essv5458355, essv5806524, essv6558328, essv5988065, essv6007458, essv5529479, essv6454364, essv6033754, essv5793798, essv6307341, essv5666488, essv5645844, essv5498991, essv6341703, essv6580880, essv6093585, essv5940057, essv6275535, essv5888741, essv6382927, essv5433879, essv5587801, essv6023298, essv5632466, essv5798493, essv6362872, essv6555624, essv5547778, essv5612988, essv6027945, essv6295673, essv5464338, essv5667075, essv6420490, essv5641247, essv5741576
SamplesHG00613, HG01441, NA12154, HG00257, NA18530, HG00551, HG00328, NA18523, HG00112, HG00274, HG00186, HG00464, NA12347, HG00131, NA20544, NA20796, NA19311, NA11918, HG01079, HG01389, HG00463, NA18516, HG01365, HG00189, NA19788, HG01082, HG01488, HG00428, HG00542, HG01174, HG00368, HG00148, HG00139, HG00739, NA18546, NA12058, HG00683, HG00698, NA20805, HG00111, HG00334, HG00581, NA19685, HG00187, HG00404, NA07051, NA19651, HG00280, HG00335, HG01101, HG01134, HG01168, NA19682, HG00177, NA20798, HG00319, HG00737, HG00253, HG00699, NA20322, NA18557, NA20755, NA12287, NA20803, HG00156, NA18950, NA19761, HG01171, HG00353, NA18596, NA20340, HG00269, NA12414, HG01550, HG00158, HG00556, HG01148, NA20505, HG00242, NA11919, NA12763, HG00346, HG01384, HG01375, NA12004, HG01378, NA18635, NA20811, NA18536, NA19675, NA18622, HG00259, HG00096, NA18623, HG01048, NA20530, NA18617, NA18990, HG00692, HG01183, NA18636, HG01124, NA18592, NA19083, NA19088, NA12273, HG00315, NA12761, HG00149, HG00338, NA18609, HG00125, HG01360, NA11843, NA11831, NA11894, NA12400, NA19075, NA20520, HG01253, NA11995, NA18916, HG00174, HG00634, HG00243, HG00276, HG00284, HG01187, NA19457, NA12777, NA12234, NA19700, HG00343, NA12144, NA19324, NA19728, NA12751, NA19190, NA20769, HG00306, HG00373, NA19360, NA19725, HG00267, NA19080, NA07346, NA12716, NA19771, HG00233, NA20291, HG00653, HG01191, HG00640, NA12778, HG00325, NA12348, NA19716, NA20790, HG00185, NA19102, HG00263, NA20753, NA12275, NA19005, HG00176, NA19664, HG00265, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG00103, HG01080, HG01351, NA20815, HG00740, NA20797, HG01494, NA20542, NA19720, NA20766, HG00525, HG00377, NA20813, NA19789, HG00236, NA19777, HG00120, NA19235, HG01094, NA12891, NA12890, NA20525, HG01137, NA19921, NA19376, NA19729, NA12272, NA12413, NA20518, NA12889, NA19116, NA19747, HG00118, NA18544, NA19755, HG00654, HG01390, NA12878, NA18614, NA18548, NA11830, NA20810, HG00123, HG00285, NA12546, HG00142, HG01366, NA18499, NA19732, NA19371, NA20543, HG00708, NA18610, NA20758, NA12045, NA11932, NA11829, HG01177, HG00320, HG01498, HG00275, HG00625, NA12717, HG00641, HG00183, HG00473, NA20804, NA20806, HG00626, HG01377, HG00702, HG00704, NA18555, HG00271, NA19661, NA19779, NA19746, HG00312, HG00327, HG00323, NA12827, NA18964, HG01515, HG00313, NA12043, HG00152, HG01359, NA18861, HG00536, NA12750, NA20514, NA12748, NA11930, NA07037, NA20522, HG01250, NA20503, HG00344, HG01072, HG00100, NA20506, HG00127, HG01055, HG00145, NA07056, NA20516, HG00369, NA18612, HG00731, HG00245, HG00736, NA20508, HG00449, HG00310, NA18550, NA18570, NA19072, HG00261, HG00707, NA20299, NA12340, NA19670, NA11931, HG00117, NA20808, HG01492, NA20816, NA20529, HG00375, HG00173, HG00326, HG01491, NA18573, NA18608, NA20778, NA20786, NA18542, NA19782, HG00270, HG00190, HG00122, HG00106, NA19834, HG01204, NA12776, HG01461, NA19648, HG00651, NA19678, HG00366, NA11893, HG00331, HG00146, NA18965, NA19780, NA12341, NA12044, HG01551, NA19147, HG00188, NA19776, HG00479, HG01133, HG00256, NA18632, NA20770, HG00342, HG00244, HG00266, HG00635, NA19762, NA20532, HG00115, HG00154, HG01254, HG00321, HG00339, NA19726, NA20761, NA19428, NA19383, NA12843, NA20533, HG00179, HG00250, HG01140, NA18508, HG01456, NA12282, NA20356, NA20515, HG00472, NA19652, NA12383, HG00337, NA11994, NA19660, HG00140, HG00638, NA12155, HG00180, NA18618, NA07357, NA20757, NA19722, HG00610, HG00231, NA20783, HG00372, HG01495, NA20801, HG01047, NA20807, HG00689, NA20754, NA18856, HG00141, HG00628, HG00330, NA18638, NA11933, HG00150, NA19774, NA20765, HG00178, NA18547, HG00258, NA12829, HG01113, HG01136, NA19835, NA20282, NA18982, NA19663, NA19679, HG00357, NA20589, HG00237, HG00133, NA18539, HG00114, HG01497, NA12006, NA19676, HG00436, HG00159, HG00620, HG00124, NA19785, HG00108, NA18537, NA12892, NA18572, NA20536, HG00268, HG01066, NA20512, NA19373, HG00629, NA18498, NA20826, NA06986, NA18522, HG00260, NA19657, NA19731, HG01073, NA18558, HG00239, HG00282, HG00232, HG01176, HG01356, NA20818, HG00478, NA18564, HG00116, NA18613, HG00513, NA20582, HG00153, HG00329, NA19707, HG00246, NA18562, HG01060, NA19382, NA18579, HG00589, HG01149, NA18606, NA18543, HG00151, NA10851, NA18582, NA18999, NA20537, HG00590, NA18983, HG00443, HG00181, HG01334, NA12749, NA20799, NA06984, HG00138, HG00663, NA12156, HG00262, NA18560, HG00580, HG01112, HG00311, HG00448, NA18577, NA20509, NA19452, NA20507, NA20513, NA18533, NA11992, NA12003, NA19770, NA19749, HG00281, NA11993, NA12399, NA19717, HG00656, NA12842, NA19655, NA18571, HG01251, HG00367, HG01125, HG00251, NA20768, HG00324, NA20528, NA18532, NA18549, NA18853, HG01374, HG01522, HG00137, HG01462, HG01489, NA20524, HG00684, NA06994, HG00143, NA20502, NA20517, HG00272, HG00345, HG00278, NA20519, HG00136, NA19065, NA07000, NA12775, HG01067, HG00361, HG01198, NA11881, NA18621, HG00309, HG00252, NA07347, NA20787, NA20771, HG00182, HG00619, NA18534, HG00418, NA12342, NA19114, HG01173, NA11920, HG00171, HG01083, NA20510, NA18526, NA20535, HG00155, NA20531, HG00160, NA10847, NA18545, NA18603, HG01197, HG00657, HG00614, HG01051, NA12828, HG00475
Known GenesSATB2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670764
Frequency
Sample Size1151
Observed Gain0
Observed Loss569
Observed Complex0
Frequencyn/a


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