A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662776



Internal ID9582195
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:148375771..148379231hg38UCSC Ensembl
chr7:148072863..148076323hg19UCSC Ensembl
Cytoband7q36.1
Allele length
AssemblyAllele length
hg383461
hg193461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5632424, essv6140413, essv6245308, essv5696299, essv5519621, essv6476478, essv5449114, essv5613560, essv6460219, essv5726378, essv5855373, essv5896790, essv6536732, essv5455996, essv5501177, essv6192847, essv5840615, essv5977713, essv6323122, essv6424997, essv5980199, essv5709669, essv6230656, essv6505568, essv6087520, essv6140359, essv6525423, essv5796133, essv6290162, essv6173131, essv6261802, essv6424889, essv5582472, essv5550093, essv5863421, essv5439130, essv5892862, essv5541455, essv6365568, essv5527669, essv5541893, essv6351709, essv5740466, essv5884431, essv6025791, essv6134793, essv6518330, essv5428164, essv6196046, essv5588332, essv5901193, essv6431614, essv5605813, essv5848498, essv5784768, essv5400637, essv6308915, essv5673577, essv5840043, essv6372626, essv5611299, essv6511956, essv6119874, essv6153599, essv5565907, essv6156004, essv6219596, essv6564851, essv6113469, essv5603485, essv5980341, essv5849025, essv5738523, essv6118711, essv6342285, essv5948114, essv6572806, essv5721215, essv6363258, essv5752743, essv5955697, essv5773846, essv5423891, essv6515096, essv5698022, essv6452460, essv5628336, essv5659933, essv6231482, essv5708758, essv6187012, essv6248894, essv6565637, essv5747370, essv5465181, essv6553458, essv6595863, essv6197609, essv5414971, essv5563447, essv5493747, essv6453373, essv6561815, essv5908085, essv5646678, essv5765563, essv5911879, essv5460734, essv6390102, essv5757038, essv5576064, essv5738230, essv5421095, essv5908907, essv6470558, essv5487873, essv6244428, essv6146035, essv6523940, essv6461704, essv5635395, essv5404651, essv6418018, essv5981395, essv6450674, essv6080138, essv6325395, essv6401839, essv6266091, essv6491915, essv6277487, essv6214291, essv5398129, essv6454791, essv5640277, essv5655534, essv6223598, essv5699527, essv6187750, essv6229644, essv6107614, essv5631915, essv6065058, essv6564186, essv5432276, essv5564283, essv6163652, essv5784177, essv6439933, essv5723507, essv6243425, essv6179827, essv6338680, essv5923727, essv5799554, essv5862436, essv5811206, essv6000151, essv5885591, essv5421112, essv5990407, essv6135782, essv5499736, essv5874533, essv6501418, essv5806396, essv5936179, essv5741891, essv6555355, essv6143067, essv5835734, essv5890094, essv5753179, essv5797560, essv6074299, essv5704607, essv5769099, essv6301414, essv6137743, essv5536507, essv6264281, essv5796630, essv5624862, essv6481402, essv5524449, essv5637027, essv5710964, essv6399548, essv5530141, essv6593303, essv6082116, essv5506969, essv5511947, essv5475184, essv6562559, essv5857899, essv5879073, essv5909014, essv6527541, essv6234216, essv5684747, essv6165644, essv6173969, essv5796583, essv5817788, essv6436460, essv5771190, essv6162576, essv5443577, essv6176746, essv5473408, essv6371815, essv5974092, essv6105793, essv6190018, essv5932157, essv5687988, essv5585879, essv6479855, essv5953519, essv5549952, essv5813859, essv5970390, essv5650884, essv6213620, essv5555306, essv6354196, essv5560629, essv6141380, essv6006975, essv6381177, essv6003385, essv6069880, essv5828162, essv5533392, essv5828916, essv6518884, essv6142300, essv5901921, essv6325468, essv6091403, essv5413359, essv5740909, essv6415593, essv5529382, essv5478670, essv6226656, essv6255440, essv5424448, essv6233981, essv5594324, essv5679784, essv6182491, essv6109154, essv6149775, essv6455387, essv5952060, essv5507097, essv5704722, essv6583120, essv6550099, essv5444671, essv6008351, essv5940157, essv6013404, essv6101423, essv5883262, essv5476569, essv6200467, essv5661661, essv5623617, essv5874543, essv5657525, essv6593002, essv6412160, essv6103414, essv5454438, essv6302762, essv6342711, essv6285949, essv5742728, essv6571919, essv5886689, essv6333809, essv5501191, essv5854788, essv5521826, essv5737618, essv6100160, essv5780023, essv5819255, essv6359068, essv6534297, essv6254325, essv5457050, essv6494373, essv6383285, essv6518564, essv6279324, essv6193150, essv5817084, essv6418307, essv6038478, essv6437101, essv5620940, essv5850190, essv6072233, essv6088859, essv5774341, essv5427701, essv6275330, essv6421913, essv5813696, essv5436526, essv5585348, essv5920854, essv6096640, essv5824120, essv5545830, essv6342852, essv6045733, essv6194733, essv6560671, essv6247884, essv6395902, essv5750355, essv5520743, essv6496054, essv5532653, essv6522266, essv6324274, essv6588083, essv5430176, essv6187990, essv6353673, essv6163632, essv5427557, essv6345225, essv5605769, essv5818823, essv6259755, essv5519816, essv5760813, essv5655881, essv6162895, essv5549533, essv6118334, essv5809452, essv5756607, essv6161353, essv6528541, essv5415663, essv5928076, essv5595135, essv6227732, essv6090387, essv5977690, essv5487855, essv6021914, essv5503003, essv6345149, essv6190337, essv6370542, essv5497177, essv6347237, essv5725800, essv5998566, essv5657266, essv5643188, essv5649107, essv6380803, essv5932213, essv5501528, essv5976958, essv5766331, essv5880446, essv6355156, essv5413341, essv5970404, essv6000975, essv6206052, essv6511026, essv5766233, essv5904108, essv6471390, essv6351764, essv6560535, essv6369677, essv6011125, essv6098189, essv5805027, essv5597481, essv5819041, essv6349128, essv5680609, essv6184685, essv6305840, essv6325641, essv5989865, essv6309041, essv5580240, essv6392755, essv6276850, essv5875752, essv6005647, essv6163883, essv6294724, essv5520454, essv6461693, essv6124066, essv5811013, essv6348543, essv6016369, essv6528952, essv5772383, essv5763016, essv6342850, essv5976082, essv5929407, essv6483244, essv5858968, essv5688016, essv5406352, essv6139837, essv5659543, essv5484436, essv5762324, essv6154563, essv6354465, essv6192961, essv6587572, essv5976512, essv5677576, essv5613446, essv6240395, essv5573142, essv6137472, essv5563703, essv6448907, essv5547324, essv6063335, essv6123218, essv6032173, essv5433930, essv5424140, essv6058317, essv5571108, essv6368924, essv6476562, essv5613445, essv5872066, essv5997084, essv6439288, essv5444533, essv6593253, essv5703901, essv5691935, essv5994425, essv6341149, essv5448508, essv6097633, essv5809352, essv5892015, essv6072159, essv6487176, essv6348391, essv5543054, essv6077886, essv6404300, essv5883681, essv6071863, essv6062871, essv6111372, essv5538500, essv5705176, essv5565220, essv5800215, essv6498240, essv5942849, essv6075466, essv6128109, essv6465167, essv6256398, essv6193199, essv5956371, essv6139103, essv5409303, essv6066155, essv6261747, essv6530010, essv6267334, essv6055013, essv5405653, essv6156575, essv5952051, essv5560495, essv5765168, essv5875440, essv6432390, essv5692296, essv5580087, essv6415308, essv5960158, essv5867488, essv5624564, essv5953374, essv5644899, essv6460473, essv6249082, essv5838607, essv5620781, essv5924962, essv6032756, essv5903098, essv6422430, essv6019300, essv5437367, essv5769316, essv5671166, essv5909390, essv5914407, essv6552479, essv6085302, essv6449076, essv6496279, essv6124969, essv6526006, essv5625984, essv6476016, essv6493554, essv5555470, essv5664426, essv6207872, essv5967845, essv6392126, essv5790453, essv5791582, essv5796248, essv6441431, essv5679619, essv6464554, essv6240079, essv5881233, essv6219360, essv6326385, essv5829096, essv6305515, essv5534500, essv5897599, essv5439969, essv5752598, essv6245092, essv6372936, essv5524518, essv6518171, essv5748195, essv6162978, essv5915356, essv5935204, essv5405199, essv5608329, essv6061112, essv6518531, essv5774944, essv5422770, essv6434001, essv6355148, essv5687056, essv6570215, essv5588384, essv5639222, essv5836080, essv5856132, essv5897726, essv5522396, essv6347806, essv6570942, essv6478816, essv6588298, essv6131182, essv6139591, essv6587371, essv5525681, essv5820824, essv6387235, essv5582949, essv6573314, essv6162630, essv6336677, essv5945820, essv5906314, essv6026714, essv5502283, essv5931606, essv5537487, essv5742789, essv5652545, essv5404519, essv5772922, essv5401338, essv5615003, essv6072087, essv5574661, essv6479475, essv5627786, essv6049968, essv6173333, essv6466390, essv6017971, essv5759162, essv5441159, essv5624096, essv5981227, essv5748678, essv5598912, essv6400639, essv5956517, essv5677071, essv6055319, essv5490338, essv6568032, essv6212443, essv6245322, essv6354005, essv6545306, essv6339318, essv6287107, essv6167580, essv5635124, essv6055438, essv6472869, essv6302478, essv5697266, essv6302979, essv6499761, essv6539674, essv5624787, essv5417253, essv5422980, essv6511974, essv5459529, essv6120595, essv6474423, essv5929598, essv6262404, essv6525176, essv5823056, essv5411502, essv5873934, essv5956938, essv5670706, essv6312895, essv6273418, essv5727130, essv5729751, essv6218970, essv5920753, essv5812909, essv6120608, essv5577312, essv6460041, essv5972266, essv6126335, essv6180654, essv6577578, essv5822361, essv6386020, essv5457320, essv5733492, essv5521762, essv5907807, essv6174607, essv5821631, essv5809041, essv5610844, essv5862871, essv5876273, essv5425952, essv6299872, essv5465296, essv5595089, essv6295689, essv6466174, essv6523277, essv5736287, essv6489107, essv6409442, essv6395044, essv5811825, essv6256358, essv6021263, essv5645172, essv6165058, essv5637404, essv6360252, essv6531242, essv5668892, essv6207486, essv5609678, essv5832591, essv6011056, essv5618749, essv5621475, essv5902512, essv6584547, essv5412395, essv6010661, essv5407154, essv5964211, essv6390534, essv6248145, essv5413524, essv5723949, essv6038252, essv6114381, essv6412143, essv6580677, essv6348550, essv5396750, essv6078382, essv5508800, essv5885914, essv5412764, essv6095244, essv6314493, essv5779376, essv5813459, essv5908558, essv6005015, essv5948800, essv6436587, essv5450038, essv5992222, essv5887694, essv6437753, essv6288728, essv5922269, essv5576066, essv6405424, essv6111954, essv6305161, essv6307243, essv6114171, essv5577055, essv6264801, essv6317936, essv5493011, essv5996566, essv6510791, essv6107071, essv6388695, essv6536087, essv6083888, essv5835607, essv5666990, essv5558894, essv5731953, essv5446499, essv5629479, essv5688513, essv6306191, essv5735466, essv5781669, essv5784799, essv5812238, essv6409487, essv5568427, essv6088824, essv5461268, essv5955139, essv5761285, essv5861856, essv6278706, essv6002725, essv6567698, essv6446083, essv6477166, essv5768515, essv5930778, essv6378428, essv6000709, essv5576968, essv5418954, essv5983909, essv5592409, essv6155170
SamplesHG01357, HG00613, HG01441, HG00380, NA19248, NA19312, NA12154, HG01440, HG00257, NA18951, NA18535, NA18871, NA12286, NA19081, HG00551, HG00328, NA20752, HG00705, HG00437, HG00112, HG00274, HG00186, HG00464, NA12347, NA20544, NA20796, HG00565, NA19311, NA11918, NA19469, NA20346, NA19223, NA19435, HG01079, HG01389, HG00463, NA18516, HG01365, NA19334, HG00189, NA19788, NA20800, HG01082, HG01488, NA18517, HG00428, NA18947, HG00542, HG00139, HG00739, NA18541, NA18546, HG01167, NA12058, HG00683, NA20805, HG00111, HG00334, HG00581, NA19685, HG00187, HG00335, HG01101, NA19701, NA19236, NA20322, NA18505, NA19472, NA20803, HG00156, NA18950, HG00353, HG00554, HG00158, HG00556, HG01148, NA20505, NA11919, NA12763, HG01384, NA19239, NA18627, NA19076, HG01375, HG00421, NA12004, NA18635, NA19675, HG00259, NA19443, NA18623, NA19471, HG01048, NA19107, NA20530, NA18990, NA18636, HG01124, NA18592, NA19083, NA12273, HG00315, NA12761, NA18956, NA19429, HG00338, HG00533, NA11843, NA11831, NA11894, NA12400, NA18637, NA20520, HG01253, HG00284, NA12144, HG00662, NA19324, NA19728, NA19190, NA19000, NA19055, NA19360, HG00267, HG01097, HG00233, NA19372, HG01516, HG00653, NA20760, HG00732, NA12778, NA12348, NA19716, NA12275, NA18510, NA19002, HG01170, HG00249, HG01351, HG00740, HG01494, NA20542, NA20766, HG00525, NA18910, HG00377, NA19711, NA18940, NA18619, NA18987, NA12890, HG00427, HG01137, NA19921, HG01190, NA19723, NA19009, NA19116, NA18631, NA20287, NA19818, HG00654, NA18548, NA11830, NA20810, NA18944, HG01366, HG00708, NA18610, NA20758, NA12045, NA11932, HG00566, NA11829, NA19130, HG01177, NA19240, HG00119, HG01498, HG00275, HG00625, NA12717, HG00183, NA20804, NA20806, HG00626, HG01377, HG00702, HG00704, NA19385, NA19779, NA18553, HG00327, NA19137, NA12827, NA18964, NA12043, HG00734, HG01359, HG01518, NA18861, HG00318, HG00607, NA20514, NA11930, NA07037, NA20809, HG01250, NA20503, HG00344, HG01072, NA20785, HG01052, HG00100, NA18561, NA20506, NA19404, HG01055, NA18952, HG00145, NA07056, NA18874, HG01342, NA20516, HG00369, NA18612, HG00731, HG00245, HG00596, NA19783, NA19401, HG00736, NA20508, HG00449, NA19060, HG00310, NA18550, NA18570, NA19003, HG00261, NA18511, NA19455, NA06989, NA12340, NA20294, NA20802, NA20775, NA18948, NA19430, NA19670, NA11931, NA19317, NA12813, HG00117, HG01492, NA19451, NA20816, NA20529, NA19010, HG00375, NA19338, NA20342, HG00326, HG01491, NA18573, NA18608, NA20778, NA20786, NA18542, NA19782, HG00553, NA19461, HG00190, HG00106, HG00701, NA19834, NA20588, HG01188, HG01204, NA12776, HG01461, NA19648, NA20314, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, NA11893, HG00331, HG00146, NA18965, NA18488, NA19780, NA12341, NA12044, NA19467, HG01551, NA18873, NA19147, HG00188, NA18626, NA19776, HG00479, NA19438, NA19654, NA20586, HG00247, HG01133, HG01521, HG00256, NA18632, NA20770, HG00342, HG00244, HG00266, HG00635, NA19762, NA20532, HG00154, HG01254, NA18559, HG00321, HG00339, NA19726, NA20761, NA19067, NA19428, NA20585, NA19383, NA19982, NA12843, NA20533, NA18624, NA18934, HG00179, HG01140, NA18508, NA19054, NA19059, NA20819, NA20515, HG00472, NA19652, HG00583, NA12383, NA18566, HG00337, NA11994, NA19057, NA19068, NA19660, HG00140, NA12155, NA18576, NA18960, HG00180, NA18618, NA07357, NA19900, NA20504, NA20757, NA19722, HG00610, HG00231, NA20783, HG00372, HG01495, NA18991, NA20801, HG01047, NA20807, HG00689, NA19396, NA20754, HG00628, NA19397, NA07048, NA18638, NA19398, NA19066, NA11933, NA20541, HG00150, NA20765, HG00419, NA18547, HG00258, NA12829, NA19256, HG01113, HG01136, NA18973, NA19835, NA20282, HG00264, HG00637, NA18982, NA19681, HG00254, NA19056, NA19663, NA19679, HG00403, NA12830, HG00357, NA18634, HG00237, NA19316, NA19684, HG00133, NA18539, NA12006, NA19213, NA19676, HG00620, NA19377, NA12046, NA19785, HG00108, NA18537, NA18620, NA19759, NA12892, NA19703, NA20536, HG00268, HG01066, NA19375, NA19393, NA20126, NA20512, NA06985, HG00629, NA18498, NA18923, NA20826, NA18486, HG00559, NA06986, NA18522, NA19238, HG01455, NA20344, HG00260, NA18502, NA19657, HG00560, NA19713, NA19731, HG01073, NA18558, NA18977, HG00239, HG00282, HG01356, NA20814, NA20818, HG00478, NA18564, NA18858, NA18942, HG00116, NA20774, NA20828, NA19332, HG00513, NA20582, NA18988, HG00153, HG00329, HG00512, HG01070, NA19707, HG00246, NA18562, NA19074, HG01060, NA19382, NA18579, NA19318, NA18985, HG00589, HG01149, NA18606, NA18543, HG00151, NA11832, NA10851, NA18582, NA18999, NA20581, NA20537, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, NA18907, NA18567, HG00611, HG01334, NA12749, NA20332, NA20799, HG00650, NA06984, NA18867, NA18565, HG00138, HG00663, NA12156, HG00262, NA18560, HG00580, HG01112, NA19719, NA19434, HG00311, HG00448, NA18602, NA18577, NA19099, NA19446, NA20509, NA19452, NA20507, NA20513, NA11992, NA12003, NA19064, NA19770, NA19749, NA19063, NA18917, NA12399, NA20812, HG00656, NA12842, NA19655, NA18571, HG00422, NA19916, NA19070, NA19470, HG00367, NA18984, NA18611, HG01125, HG00251, NA20768, HG00324, NA20528, NA18549, NA18574, HG00442, HG01374, HG01522, HG00137, HG01102, HG01462, HG01489, NA19381, NA19473, NA20524, HG00684, NA06994, HG01110, NA19758, HG00336, HG00476, NA20502, NA20772, HG00345, NA19468, NA20538, NA19750, HG00278, NA19007, NA20519, HG00136, NA19065, NA07000, NA12775, NA18980, HG01067, HG00361, HG01198, NA11881, NA18621, HG00157, NA12489, HG00252, NA07347, NA20787, NA19712, NA18595, NA18616, NA20771, HG00182, NA19904, NA20527, HG00619, NA18534, HG01353, HG01519, NA19819, NA12342, HG00350, NA19437, NA19114, HG01173, NA11920, HG00171, NA20510, NA20535, NA20531, HG00160, NA10847, NA18545, NA20759, HG01197, HG00657, NA19359, HG01051, NA12828, HG00475, HG01174, HG00368, NA19449, HG00148, NA19920, HG01350, NA12005, NA18489, NA19379, NA20539, NA18963, NA07051, NA19651, HG00280, HG01134, HG01168, NA19682, HG00177, NA20798, HG00319, HG00737, HG00699, NA20755, NA12287, NA20521, NA18943, NA19761, HG01171, NA18596, NA18628, NA18949, NA20340, HG00269, HG00592, NA12414, HG01107, NA19062, HG01550, NA19085, HG00593, HG01378, NA20811, NA18536, NA18622, HG01061, NA18617, HG00692, HG01183, NA20127, NA19908, HG00098, HG00149, HG00125, HG01360, NA19075, NA11995, NA18916, HG00174, HG00276, HG01187, NA12777, NA19700, NA19082, NA20341, NA12751, NA20769, HG00373, NA19247, NA19313, NA19380, HG01437, NA19395, NA19786, NA19080, NA07346, NA12716, HG01465, NA19771, HG01191, NA19374, HG00640, NA20348, NA19384, NA20790, HG00185, NA20795, NA18986, HG00263, NA20753, NA19005, NA19664, HG00265, HG00672, HG01069, NA18961, HG00277, HG00103, HG01080, NA20815, NA20797, NA19720, NA12283, HG01383, NA20813, HG00236, NA19777, HG00120, NA12891, NA20525, NA18597, NA19138, NA19729, NA12272, NA20756, HG01095, NA18538, NA12413, NA20518, NA12889, NA19747, NA18544, HG01390, NA12878, NA18614, HG00123, HG00285, NA19225, NA12546, NA18499, NA19732, NA19371, NA20543, NA19756, NA19346, HG00320, HG00690, HG00641, HG00473, NA18615, NA19087, HG00271, NA19661, HG00126, NA19746, HG00531, HG01354, HG00312, HG01515, NA12718, HG00313, HG00152, NA12249, HG00536, NA12750, NA20522
Known GenesCNTNAP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662776
Frequency
Sample Size1151
Observed Gain0
Observed Loss786
Observed Complex0
Frequencyn/a


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