A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661320



Internal ID9927425
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:133784922..133786238hg38UCSC Ensembl
chr3:133503766..133505082hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg381317
hg191317
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6125615, essv6199157, essv6137427, essv5701384, essv5890132, essv6248381, essv6053013, essv5548206, essv6552251, essv6246028, essv6048659, essv5966214, essv5517564, essv6279889, essv6291839, essv5399373, essv5941993, essv6202151, essv5683788, essv6266809, essv6127968, essv6104406, essv6193343, essv5959113, essv5721628, essv6547933, essv6421362, essv6027143, essv5508689, essv5933360, essv5864879, essv5699126, essv6293728, essv6034550, essv5487129, essv5995213, essv6358720, essv5875744, essv6135558, essv5796001, essv5553600, essv6141023, essv5481313, essv6056748, essv5433997, essv5994838, essv6256856, essv6357775, essv6270897, essv6416214, essv5428138, essv6580243, essv5457698, essv5524122, essv6085816, essv6375251, essv5694271, essv6449451, essv5788815, essv5560167, essv6220825, essv6326967, essv6305602, essv5535550, essv5507829, essv6356824, essv6101099, essv6428134, essv5860668, essv6319017, essv5873537, essv5926513, essv5646806, essv5654112, essv5571786, essv6505160, essv6376606, essv5988355, essv5758230, essv6117562, essv5816661, essv6077187, essv6303225, essv6573201, essv5541948, essv5933367, essv6593530, essv5633101, essv5698397, essv6318545, essv6243462, essv5583290, essv6222756, essv5882717, essv5578634, essv5898454, essv5584787, essv5823807, essv6155257, essv5801843, essv5605999, essv6419546, essv5421680, essv6164308, essv6121076, essv6075027, essv5594815, essv5781357, essv5420172, essv5529238, essv6332711, essv5816304, essv5989598, essv5895966, essv5731769, essv5399817, essv5849122, essv5790545, essv6596853, essv6538015, essv5605439, essv5493931, essv5450242, essv5619663, essv6514821, essv5454811, essv6219799, essv6086948, essv6234501, essv5517877, essv6452709, essv5660684, essv6155948, essv5886242, essv5673993, essv5577735, essv6328855, essv6445845, essv5744077, essv6450643, essv6440620, essv6499546, essv5444583, essv6236067, essv5743679, essv5778087, essv6076065, essv6446410, essv6498002, essv6509365, essv5447457, essv5873079, essv6252176, essv5961287, essv5671417, essv6243523, essv6556534, essv5550306, essv5515127, essv6203333, essv5878043, essv5611558, essv6515217, essv6455123, essv5638335, essv5850144, essv5591491, essv6166346, essv5753477, essv5611937, essv6488071, essv6181387, essv5744463, essv5691203, essv6321259, essv6251053, essv6212712, essv5837183, essv5709989, essv6160818, essv5947376, essv6017877, essv5942661, essv6239128, essv6125749, essv5537331, essv5472902, essv6579545, essv5439929, essv6314687, essv6184755, essv5986924, essv6060532, essv5444019, essv6254823, essv6194840, essv6014700, essv5834178, essv6143488, essv5562549, essv6004046, essv6244249, essv5666958, essv5436359, essv6065887, essv6322943, essv6263419, essv5568070, essv5466582, essv6390949, essv5665272, essv5488690, essv5703403, essv5599290, essv5798251, essv5973490, essv5541114, essv5737407, essv5686414, essv6079679, essv5842766, essv5606833, essv6108009, essv5725842, essv6567373, essv6168473, essv6393285, essv6298473, essv6230433, essv6472750, essv6211013, essv5835332, essv5803365, essv5427736, essv6574205, essv6587541, essv6548895, essv6321443, essv6125759, essv5713866, essv5995793, essv6494066, essv6485388, essv6492093, essv5790302, essv6459923, essv6249895, essv5968136, essv5964854, essv6212643, essv6318927, essv6585069, essv5778295, essv5737103, essv6502741, essv6430797, essv5571203, essv5547248, essv6340692, essv6212619, essv6318621, essv5688042, essv5552094, essv5420094, essv5617236, essv6486872, essv5524831, essv6501690, essv6444675, essv6368233, essv5470903, essv5625963, essv6204407, essv5406141, essv5840686, essv6158155, essv6145942, essv6547698, essv5824016, essv6394225, essv5852064, essv6434336, essv5458528, essv6020863, essv6502291, essv6109105, essv6134568, essv5630047, essv6529802, essv5530697, essv6205477, essv6362988, essv5670204, essv6273923, essv6037710, essv5784808, essv5483955, essv6315283, essv5814774, essv6183581, essv6162993, essv6434379, essv5516632, essv5869517, essv6378870, essv6369417, essv5467952, essv6431365, essv5818567, essv6543387, essv6160206, essv6314424, essv5822190, essv5755276, essv5571683, essv5694314, essv6431973, essv5438525, essv6468087, essv6306959, essv6460818, essv6068930, essv5544771, essv5681347, essv5452248, essv6355377, essv5949932, essv6116607, essv5734833, essv5476517, essv6083956, essv5840151, essv5678630, essv5935961, essv5901511, essv6118195, essv5882193, essv5859914, essv6151072, essv6107015, essv5966301, essv5741873, essv5734307, essv6191881, essv5717345, essv6422691, essv5952269, essv5951645, essv6021044, essv6334911, essv5832133, essv5804544, essv5677407, essv6481491, essv6071766, essv6023346, essv5744485, essv6454013, essv5756704, essv6497205, essv5596204, essv5885109, essv5676752, essv6374819, essv6439502, essv6183522, essv6141005, essv5821619, essv5666740, essv5494633, essv6006730, essv5827436, essv5874895, essv6178759, essv6067942, essv5519748, essv5503568, essv6130970, essv5762267, essv5624202, essv6501531, essv6432138, essv6119267, essv5937060, essv6551169, essv5839929, essv6055660, essv5910792, essv5964741, essv5886306, essv5397616, essv6411188, essv5895701, essv5652992, essv6276905, essv6259327, essv5989770, essv5545721, essv6227137, essv5596737, essv5843310, essv6279048, essv5549616, essv5884338, essv5951620, essv5962877, essv6437724, essv6541044, essv5418528, essv5990634, essv5673421, essv5897751, essv5867082, essv6141802, essv6000552, essv5643569, essv5828894, essv5682568, essv6485289, essv5612014, essv5951842, essv5845672, essv5711693, essv5522314, essv5866708, essv6473719, essv5894956, essv6332797, essv6186043, essv6379340, essv6244864, essv6192509, essv6228177, essv5609517, essv6150774, essv5861222, essv5829652, essv6426245, essv6136213, essv5617313, essv6257147, essv6226568, essv5805750, essv6259936, essv6366438, essv5882469, essv5945524, essv5947736, essv6294541, essv5666808, essv6384489, essv6415753, essv5974170, essv5830246, essv6363749, essv5404817, essv5972409, essv5881605, essv5725042, essv6409778, essv5909089, essv5529794, essv5939773, essv6455262, essv6109395, essv5968982, essv5883496, essv5430227, essv5944607, essv6470356, essv5436605, essv5629413, essv5446877, essv5919494, essv6252016, essv6044504, essv5504502, essv6223788, essv6424453, essv6144790, essv5748573, essv6485024, essv6360853, essv5991561, essv5464907, essv5882678, essv6411114, essv6341833, essv5841545, essv6076375, essv6113605, essv6092967, essv6453293, essv6140221, essv6243148, essv5688203, essv5564983, essv6561683, essv6164841, essv5681977, essv6540930, essv6250296, essv6417685, essv5929464, essv5623754, essv6049351, essv6034455, essv5526272, essv6112830, essv6467013, essv5616143, essv6410478, essv6295540, essv6458532, essv5968647, essv5437576
SamplesNA20588, NA18502, HG00189, HG00650, HG00442, NA19058, NA20529, HG00608, NA18621, HG00142, NA18947, NA19664, NA12843, NA11920, NA11931, HG00257, HG00233, NA20512, NA12751, NA18504, NA19684, NA18530, NA18633, NA12750, NA20806, NA19067, HG00337, NA12813, HG00138, NA19171, HG01350, HG00589, HG00122, HG01177, HG01167, NA18558, NA18960, NA18618, NA18574, NA18582, HG00311, HG00243, NA19079, HG00158, HG00512, HG00281, HG00139, NA20759, NA19720, HG01519, NA20812, NA18868, NA19172, NA18985, NA18867, NA20515, NA19789, HG00137, NA12777, NA18605, NA12489, HG00731, NA18538, NA19070, NA19056, NA12878, HG00657, NA20760, NA19717, NA19663, HG00344, NA19081, NA12718, NA20519, NA18948, NA19064, NA18548, NA18907, HG00690, HG00404, NA18532, NA19059, NA19009, NA19452, HG00463, HG00126, NA19625, NA18593, HG01107, NA19729, HG00611, NA19652, NA19440, NA18533, HG00336, NA18517, NA18628, NA20520, NA19010, HG01174, HG00098, HG00116, NA19083, NA18943, NA12763, HG00662, NA12347, HG00614, HG00513, HG00478, NA19785, NA18631, NA19223, NA19779, HG00267, NA19102, HG00112, NA20826, HG00377, HG00595, NA18989, NA19129, NA18624, NA19065, NA18612, NA18487, HG00581, NA20772, HG00096, HG00592, NA19055, NA18924, NA19466, NA11995, NA18592, HG01359, HG01052, NA18561, NA19704, NA18507, HG01188, NA11933, HG01389, HG01374, NA18603, NA12045, HG00699, NA12004, NA12058, NA20808, NA20507, NA19190, NA19098, NA12400, NA12341, HG01250, NA19746, NA19660, NA18550, HG00251, NA18489, NA18595, HG00702, HG00689, NA18635, NA19916, HG00330, HG00634, NA18942, HG00736, HG00610, NA19197, HG01354, NA12287, HG00247, NA19054, NA20513, NA19681, NA12761, HG01134, HG00120, HG00683, HG00106, HG00262, NA19371, NA18560, NA19075, NA18617, HG00182, NA19725, NA19189, NA18520, HG00637, NA12828, NA18908, NA18973, HG00530, HG00464, NA19007, HG00543, HG01136, NA18613, NA19657, HG00183, NA20787, NA20524, HG01384, NA12342, NA19077, NA19462, NA19347, NA20809, HG00475, HG00584, HG00500, NA18976, NA20770, HG01094, NA19000, NA19655, HG00373, HG01197, NA18499, HG01383, NA12892, NA20282, NA19225, NA20828, NA20542, NA18576, HG00476, NA20801, HG00119, NA18535, NA11881, NA18952, NA18559, NA12775, HG00565, NA19732, HG00136, NA20803, HG00125, NA19376, NA19078, HG00707, HG00578, NA19248, NA18987, NA12749, NA19713, HG00174, NA20807, HG00343, NA18552, HG00372, HG00252, NA18984, NA07056, NA19004, NA18549, HG01191, HG00437, NA12383, NA19701, HG00542, NA12717, HG01173, NA19909, NA20766, NA12286, NA20508, HG00242, NA19204, NA18508, HG00559, NA20783, NA18565, HG01066, HG00315, NA20752, NA20802, HG00181, HG00737, NA18616, NA20771, NA18510, NA12399, NA18988, HG00663, NA20814, NA07346, NA18563, HG00641, NA19373, NA18940, NA18519, HG00272, NA20774, NA19062, NA07347, NA18571, NA19904, NA20539, NA12275, NA20518, NA12156, HG00156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, HG00534, NA19722, HG00160, NA18990, HG01048, HG01133, NA20127, NA18539, NA20753, HG00443, HG01171, HG00282, NA19670, HG00557, NA18933, HG00732, NA19455, NA20314, HG00583, HG00263, HG00275, NA18871, HG00740, NA19654, HG00284, NA19461, NA11919, HG00651, HG00250, NA18626, HG00479, NA20581, NA18912, HG01101, HG00140, NA18553, HG01497, NA19099, NA18555, HG00146, HG00704, HG00246, HG01075, NA12043, NA18953, HG01148, NA19375, NA19003, NA18632, HG00155, HG00254, HG00625, NA19747, HG00353, NA20815, HG01357, NA20530, NA20527, HG01375, HG00473, HG00237, NA19679, NA19311, HG01137, NA19783, HG00418, NA18610, HG01489, HG00339, NA18501, NA19716, NA19093, NA20510, NA18636, HG00310, NA20786, NA19116, NA19780, NA19430, HG01125, NA18968, NA19063, NA20754, HG01516, NA11830, HG01098, HG00536, HG00249, NA11829, HG00524, NA20532, HG00367, NA18486, NA19057, HG00566, HG00179, NA18870, NA12155, NA19374, NA18944, HG00501, HG00448, NA18982, NA19198, NA18619, NA12891, NA12348, NA12283, NA19138, HG00270, NA19782, NA18611, HG01455, HG01067, NA20819, NA06984, NA18977, NA19917, NA19137, HG00422, NA19317, HG01440, HG00309, HG00427, NA20811, NA19901, HG00159, NA19445, NA18975, NA20533, NA19200, HG00739, HG00264, NA11993, HG00260, NA11831, HG01183, NA19210, NA18934, HG00596, NA12003, NA19152, HG00190, HG00653, HG00577, NA18956, HG00701, HG01515, NA19236, NA18516, HG00436, HG00533, NA18637, NA20506, HG00708, HG00635, NA18566, NA19114, NA19774, NA11894, NA18856, NA12249, HG00117, HG00613, HG00157, NA12827, NA19257, HG00276, NA18634, NA20534, NA19675, NA18945, NA18608, HG00124, NA20773, NA18542, NA18909, HG01190, NA18961, NA18941, NA19144, NA12046, NA20516, NA19085, NA06986, HG00269, NA19060, HG00421, HG01055, HG00123, HG00186, HG00698, NA19213, NA20528, NA19758, NA18511, NA07000, NA18522, NA18622, HG01061, NA12776, NA18965
Known GenesSRPRB
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661320
Frequency
Sample Size1151
Observed Gain0
Observed Loss516
Observed Complex0
Frequencyn/a


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