A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675887



Internal ID9595306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49377265..49379726hg38UCSC Ensembl
chr13:49951401..49953862hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5932761, essv5737443, essv6323790, essv6554890, essv5734244, essv5478331, essv5546802, essv5850597, essv5924129, essv5649585, essv6193672, essv6307182, essv6325277, essv5747036, essv5618713, essv5798334, essv5924203, essv6114218, essv5727833, essv6415227, essv5545822, essv5652574, essv6318641, essv6357774, essv5676731, essv5624352, essv5444751, essv5594060, essv5583496, essv5402540, essv6036930, essv5646141, essv5437233, essv5557169, essv6251198, essv6053782, essv5671368, essv6363834, essv6015212, essv5986813, essv5520273, essv6342721, essv5542267, essv5568856, essv5873014, essv5702971, essv6504765, essv6271027, essv5906320, essv5533941, essv6415846, essv5753239, essv6173054, essv6522642, essv6381919, essv6104936, essv5550698, essv5893024, essv5869836, essv6175080, essv5887404, essv6009823, essv5479480, essv5664400, essv6006105, essv6179766, essv5916235, essv5750346, essv5613276, essv5950292, essv5848660, essv6197562, essv5871037, essv6363832, essv6391729, essv6427945, essv5850237, essv5492761, essv6307641, essv6594182, essv5871768, essv6251768, essv6262256, essv5516840, essv6175940, essv5545491, essv6594278, essv6457815, essv5848443, essv6174081, essv6574033, essv5581768, essv6317309, essv6449732, essv5469298, essv5876704, essv5668705, essv6165564, essv6187284, essv6116927, essv5562188, essv6043319, essv5934950, essv5486075, essv6057565, essv6475447, essv6325957, essv6209958, essv5499737, essv5800655, essv6472021, essv5919611, essv6179808, essv5543362, essv5667491, essv6296534, essv6104412, essv5550397, essv6330650, essv5432030, essv5962662, essv5993416, essv6263114, essv6150010, essv5408632, essv5457468, essv6067029, essv6283199, essv6073929, essv6252714, essv5652781, essv6279045, essv5620529, essv6210792, essv6261194, essv5598381, essv6203363, essv5547998, essv6457718, essv5852057, essv6111357, essv6086039, essv6156808, essv5861933, essv5701802, essv6038545, essv6381671, essv5696486, essv6476705, essv6490129, essv5602764, essv5666023, essv5960036, essv5807019, essv5946335, essv6328736, essv5575051, essv6211028, essv6189894, essv6401255, essv6387018, essv5784830, essv6392998, essv5620955, essv5951740, essv6172547, essv6221957, essv6063173, essv6297188, essv6438193, essv5761921, essv5764723, essv6082368, essv6393567, essv6458375, essv5605825, essv6531716, essv6009612, essv6204062, essv6153207, essv6015794, essv6421972, essv6533210, essv5501229, essv6298680, essv5637796, essv6241140, essv6212017, essv5483243, essv5758564, essv6243900, essv5431417, essv5909617, essv6033778, essv5771630, essv6178669, essv6489845, essv6218792, essv6198457, essv6176751, essv6478238, essv6540106, essv5436702, essv6296856, essv6410412, essv5520625, essv6216315, essv5616415, essv6384540, essv5617858, essv5423780, essv5537950, essv6366556, essv6439381, essv5601665, essv5829897, essv6522305, essv5788732, essv6029718, essv6485968, essv6247081, essv6161932, essv5750028, essv6000589, essv6377988, essv5947558, essv6301767, essv6350711, essv6592407, essv5679297, essv5720908, essv6548632, essv6004814, essv6210113, essv5668619, essv5930208, essv6513187, essv6305524, essv5672576, essv6154789, essv6476837, essv6210945, essv6014263, essv5939990, essv6457496, essv6393598, essv6483385, essv5944187, essv5624262, essv5772713, essv5489297, essv5806574, essv5715368, essv6387311, essv5932035, essv6541840, essv6087221, essv5630850, essv6297516, essv6097954, essv6189899, essv5473824, essv5801817, essv5867040, essv5835543, essv5540347, essv5584162, essv5538592, essv6579037, essv6220906, essv5441200, essv5927500, essv5865989, essv5828188, essv6530963, essv5562149, essv6485164, essv6118880, essv6330547, essv5996746, essv5550842, essv6160013, essv6553447, essv5691450, essv5937828, essv6413941, essv5770957, essv6558352, essv6074751, essv6151442, essv6035532, essv6389453, essv5874315, essv5939058, essv6442371, essv6050627, essv6597797, essv6321796, essv5866784, essv5447772, essv6199907, essv6423427, essv5863298, essv6377717, essv5810656, essv5940508, essv5512696, essv6229835, essv5748241, essv5978340, essv5860296, essv5617351, essv5822774, essv6070652, essv5736172, essv5866236, essv5874290, essv6323699, essv5811815, essv6481838, essv6471146, essv5517455, essv5903426, essv6328607, essv5704583, essv6189582, essv5869380, essv6238391, essv5671829, essv5805496, essv5949182, essv6191920, essv5751726, essv6433939, essv6595212, essv5900232, essv6213477, essv6251694, essv5579520, essv6076350, essv5639298, essv5931186, essv5520740, essv6322290, essv6404995, essv6291667, essv6163826, essv5989394, essv6104242, essv5463280, essv5684889, essv6452676, essv5949849, essv6581323, essv5936668, essv6340390, essv5453026, essv6454485, essv5553885, essv5988340, essv5757346, essv6181141, essv6197773, essv6389796, essv6595559, essv5457005, essv6397373, essv5856332, essv5403687, essv6192094, essv5417794, essv5690733, essv6146418, essv6275840, essv6307315, essv6111988, essv5479523, essv5525337, essv6063494, essv6002316, essv5970034, essv6502206, essv5984082, essv6465557, essv6422247, essv6402220, essv6477262, essv5611871, essv5594604, essv6003443, essv6515000, essv6552887, essv6589322, essv6183620, essv6135940, essv6486033, essv6437606, essv6529364, essv5485668, essv5669874, essv5434638, essv5775980, essv5527376, essv6470972, essv6549556, essv5861292, essv5835491, essv5625334, essv5741998, essv6193076, essv5762256, essv6065014, essv5654690, essv6235443, essv5885307, essv5579442, essv6436383, essv6061311, essv6048904, essv5472016, essv5844473, essv5734849, essv5577980, essv5812722, essv5665476, essv5574283, essv5938548, essv5710804, essv5861531, essv6245181, essv6147032, essv6057340, essv6457223, essv6564329, essv5397806, essv5710514, essv6230230, essv6401583, essv5433415, essv6458860, essv6015108, essv6035984, essv5737677, essv6224789, essv5838594, essv6257661, essv6174499, essv6275776, essv5771127, essv5800258, essv6276615, essv5577567, essv6168950, essv5560791, essv6422239, essv5542042, essv6499107, essv6292637, essv5634525, essv6406182, essv6132754, essv5979037, essv5758885, essv5799298, essv6011137, essv5958687, essv5396941, essv6110030, essv5449444, essv5515590, essv5893971, essv5694998, essv5598815, essv6058644, essv5670135, essv6414353, essv6295256, essv5634134, essv5588176, essv6522077, essv5518809, essv5977981, essv6287324, essv5545720, essv6029079, essv5994324, essv6172666, essv6238658, essv6216492, essv6199129, essv5678616, essv5946394, essv5640101, essv5632258, essv5843846, essv6188510, essv5677282, essv5981807, essv5879415, essv6480028, essv6302748, essv6135789, essv6462579, essv5820773, essv6448024, essv5790333, essv5833034, essv5483340, essv6383156, essv6251359, essv6124345, essv5412656, essv6550486, essv5869888, essv5544171, essv5899536, essv5840634, essv6353754, essv6003913, essv5665055, essv5736932, essv5542757, essv6205851, essv6119484, essv5708253, essv5561985, essv5561936, essv6181273, essv6437721, essv5441488, essv6099390, essv6456592, essv6195798, essv5429779, essv5739976, essv5817270, essv5944706, essv6149216, essv5511356, essv6438169, essv6294088, essv6580352, essv5472677, essv6521198, essv6498025, essv5887799, essv5858974, essv5911078, essv5399508, essv5660626, essv5404125, essv6493516, essv6054695, essv5697431, essv5703845, essv5884668, essv5573678, essv6435218, essv5450293, essv6354687, essv6354840, essv5595621, essv5962271
SamplesNA20588, NA18502, HG00189, NA20529, HG00608, NA18621, HG00142, NA19664, NA11920, NA11931, NA18999, HG00233, NA20512, NA12751, HG00153, NA18504, NA19377, HG01518, HG01461, NA19920, NA18633, NA20806, NA19067, NA12813, NA19446, NA19379, NA20589, HG01177, NA19678, NA18558, HG01492, NA18960, NA18916, NA18574, NA11918, NA18582, NA20768, HG01083, HG01365, NA19384, HG00537, HG00311, NA18949, HG00281, HG00139, HG00335, NA18868, NA19238, NA19172, NA19239, NA18985, HG00326, HG00323, NA19985, NA18867, HG01550, NA19789, HG00137, NA12777, HG00731, HG00266, NA19070, HG00657, NA20760, NA19717, NA19663, HG01498, NA20519, NA18948, NA12234, NA18907, NA18537, HG01047, HG01102, NA19453, NA06989, HG01334, NA19009, NA19682, NA19318, NA12778, HG00126, NA19625, HG01107, NA20799, NA19652, NA19440, NA18533, HG00336, NA19256, NA18517, NA19712, NA19434, HG00580, NA19331, NA19428, HG00116, NA19083, NA19360, NA12763, HG00662, HG01342, NA12347, NA19328, HG00614, HG00478, NA19223, HG00267, NA18609, NA19102, NA18873, HG00112, NA19770, NA20826, HG00377, HG00274, NA20503, NA19129, NA18624, NA18612, NA19429, NA18487, HG01437, NA19431, NA20772, HG00626, HG00096, HG01060, HG00114, HG01441, NA19700, NA19397, NA18924, NA19466, NA11995, HG00100, NA19704, NA18507, HG01188, HG01389, HG01374, HG00306, NA18603, NA12045, NA19092, NA19819, NA12004, NA12058, HG00150, NA19190, NA12341, NA20537, HG01250, NA19660, HG00251, NA18489, NA19728, HG00702, NA19723, NA19916, HG00330, NA19649, NA19197, HG01354, NA18498, NA20513, NA20336, HG00590, NA20541, NA12761, HG01134, NA12282, HG00277, NA12005, HG00120, HG01170, HG00262, NA19719, NA19371, NA18617, NA19471, HG01176, NA12889, HG00182, NA19725, NA18520, HG00637, HG00338, NA18908, NA18973, HG00530, NA19451, NA12748, HG00108, NA19007, HG01136, HG00149, NA19657, HG00183, HG00176, NA19082, NA19707, NA20524, HG01384, NA12342, NA19462, NA19347, NA20536, NA19391, NA19327, NA19982, HG00584, NA19788, NA18910, NA20770, NA20344, NA19776, HG01094, NA19655, HG01197, HG01383, NA12892, NA18853, NA19225, HG00141, NA20542, NA20296, NA19685, NA19401, HG00119, NA11881, NA19834, NA19108, NA12775, NA19749, HG00565, NA19732, HG01253, HG00136, HG00638, NA07051, NA19786, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, NA19078, NA19248, NA19438, NA20582, NA19472, NA18987, NA19713, HG00174, HG00343, HG00372, HG00252, HG01377, NA07056, HG01464, NA18505, NA20322, HG00345, NA19394, NA19701, NA20761, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA20766, NA20508, NA19066, HG00242, NA18861, NA18508, NA12273, NA20783, NA20514, HG01066, HG00315, NA20802, HG00244, NA19350, HG00181, NA19359, NA20294, NA20332, NA18616, HG00449, NA20517, HG01051, HG00261, NA20771, NA18510, NA12399, HG01522, NA20814, NA07346, HG00641, NA19373, NA18940, NA18519, NA19319, HG01351, NA20774, NA18923, NA07347, NA19457, NA20287, HG00185, NA19904, NA19130, NA11930, NA20539, NA12275, HG01069, NA20518, NA20278, HG00148, HG00156, NA11932, HG00232, NA19372, NA12044, NA11994, NA19235, NA19722, HG00160, HG00118, HG01198, HG01133, NA20342, NA20127, NA20753, HG01124, HG00154, NA19908, HG01171, HG00282, NA19403, HG00245, HG00732, HG00263, HG00275, NA18871, HG01149, HG00740, NA19654, NA19461, NA11919, HG01101, NA18553, NA19099, NA19761, NA18555, HG00152, HG00146, NA12144, NA19469, HG00246, NA18858, NA12546, HG01075, NA19012, NA18953, HG01148, NA19375, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA19147, NA20276, NA19747, HG00353, NA20815, NA12272, HG01551, HG00734, HG01357, NA20790, NA20527, HG01375, NA19835, NA20778, HG00237, NA19679, NA19311, HG01113, HG01137, NA19783, NA18610, HG01489, HG00339, NA18501, HG00259, NA19474, NA19093, NA20510, NA18636, NA20289, HG00310, NA20786, HG00280, NA11843, NA20758, NA19116, NA19711, NA19900, NA18983, HG00147, NA19430, NA19316, HG01125, HG00171, NA12006, NA19463, NA20585, NA12154, NA20754, NA19346, HG00553, NA19676, HG01516, HG00403, NA11830, HG01521, HG01098, HG01356, HG00231, HG00249, NA11829, HG00361, NA19914, NA19332, NA20531, HG00640, HG00367, NA18486, NA19393, NA18596, HG01456, HG00177, NA12155, NA07357, HG01140, NA18967, NA19374, NA19396, HG00127, NA19381, NA20796, HG01366, HG01070, NA19382, NA19448, HG01488, NA20586, NA19198, NA20317, NA12891, NA12283, NA19771, NA19138, HG00270, NA19404, HG01067, NA19383, NA18874, NA20819, NA06984, NA19917, NA19385, NA19317, HG00309, NA20811, NA19901, HG00159, NA19456, NA19445, NA20533, NA11993, NA18614, NA11831, NA10847, HG01353, HG00313, NA18544, NA19210, NA19437, HG01187, NA18934, HG00145, HG00328, NA20505, NA12003, NA19152, NA18956, HG01515, NA19236, NA18516, NA20126, HG00273, NA19114, NA20299, NA11894, NA18856, NA12249, HG00117, HG00321, NA19338, NA19257, NA19675, NA19436, HG00124, NA20773, NA20522, NA12716, NA18909, HG01190, HG00285, NA19321, HG00366, NA19473, NA19435, NA19240, HG00278, NA19380, HG01494, NA07037, NA06986, NA19398, HG00111, NA20348, HG01491, NA20334, HG01055, HG00123, HG00186, NA19213, NA20528, HG01251, NA19661, HG01378, HG01082, NA19758, NA18511, NA18522, HG01112, HG00554, HG01061, NA18562, NA12776
Known GenesCAB39L
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675887
Frequency
Sample Size1151
Observed Gain0
Observed Loss563
Observed Complex0
Frequencyn/a


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