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 Variantsessv5798334, essv5919611, essv6132754, essv6057565, essv6340390, essv5899536, essv5879415, essv5573678, essv6325277, essv5620955, essv6594278, essv6104242, essv5747036, essv6322290, essv5848443, essv6397373, essv6438169, essv6191920, essv6065014, essv6354840, essv6189899, essv5737677, essv6216315, essv6580352, essv6150010, essv5949182, essv5447772, essv6241140, essv5951740, essv6251359, essv6330650, essv6476837, essv6402220, essv5408632, essv5617858, essv5784830, essv5866784, essv6533210, essv6216492, essv5696486, essv5858974, essv5979037, essv5472677, essv5944706, essv5761921, essv5525337, essv6149216, essv6209958, essv6477262, essv6147032, essv5885307, essv6515000, essv5843846, essv6499107, essv5584162, essv6165564, essv5441488, essv6192094, essv6490129, essv5561936, essv5790333, essv5669874, essv5533941, essv5568856, essv6383156, essv6449732, essv5666023, essv5856332, essv6203363, essv5613276, essv5788732, essv6363834, essv5429779, essv5751726, essv5665476, essv5485668, essv6230230, essv6328607, essv5479523, essv5562149, essv5634134, essv6243900, essv6404995, essv6422247, essv5433415, essv5996746, essv5970034, essv5557169, essv6043319, essv6389796, essv5577980, essv6475447, essv5962271, essv6050627, essv5664400, essv5399508, essv6513187, essv6048904, essv5432030, essv6363832, essv6099390, essv6297516, essv6457496, essv6238391, essv5812722, essv5989394, essv6061311, essv6111988, essv6530963, essv5939990, essv5764723, essv5665055, essv6238658, essv5550842, essv6393567, essv6003913, essv5869380, essv6058644, essv5437233, essv6410412, essv6251694, essv5829897, essv5701802, essv5865989, essv6295256, essv5652574, essv5949849, essv5649585, essv6175940, essv5646141, essv5758885, essv5520740, essv5538592, essv6472021, essv6401255, essv6015108, essv5697431, essv5844473, essv5869888, essv5694998, essv5866236, essv5436702, essv6483385, essv5542042, essv6387018, essv5403687, essv5542757, essv5670135, essv5561985, essv5937828, essv5811815, essv5402540, essv6118880, essv5684889, essv5734244, essv5654690, essv6114218, essv5598381, essv5927500, essv6552887, essv5515590, essv6011137, essv6189582, essv6554890, essv6163826, essv6036930, essv5727833, essv6261194, essv6589322, essv5679297, essv5806574, essv5924129, essv5715368, essv6387311, essv5562188, essv5887404, essv5441200, essv6029079, essv6006105, essv6457223, essv5758564, essv5544171, essv6235443, essv5483340, essv5620529, essv5598815, essv6074751, essv5750346, essv6421972, essv6004814, essv5852057, essv6529364, essv6550486, essv5545491, essv6381919, essv5848660, essv5617351, essv6204062, essv5993416, essv6015212, essv6454485, essv5575051, essv6548632, essv6073929, essv6377717, essv6003443, essv5874290, essv6271027, essv6035532, essv6301767, essv6153207, essv6009612, essv5850237, essv6564329, essv6063173, essv6323790, essv5588176, essv6179766, essv5545720, essv5579442, essv6168950, essv6470972, essv5750028, essv6406182, essv6187284, essv5903426, essv5624262, essv5457005, essv5986813, essv5861531, essv5988340, essv6330547, essv5958687, essv5822774, essv5469298, essv6211028, essv6485968, essv5547998, essv6592407, essv5884668, essv6353754, essv6423427, essv6245181, essv5736172, essv6135789, essv5450293, essv6296856, essv6392998, essv5542267, essv5463280, essv6597797, essv5492761, essv6414353, essv6174081, essv5817270, essv6502206, essv5640101, essv5672576, essv5616415, essv6393598, essv6283199, essv6350711, essv5938548, essv6437721, essv5869836, essv6087221, essv5546802, essv6195798, essv5611871, essv6493516, essv5962662, essv6172666, essv5771127, essv6104936, essv6436383, essv6433939, essv6111357, essv6457718, essv5924203, essv6292637, essv5934950, essv6038545, essv6321796, essv5900232, essv5850597, essv6198457, essv5977981, essv6199129, essv5667491, essv6307315, essv5472016, essv5800655, essv5873014, essv5775980, essv5512696, essv6000589, essv6553447, essv6448024, essv5624352, essv5473824, essv6054695, essv5550397, essv6205851, essv6354687, essv5486075, essv5677282, essv6212017, essv6251198, essv5630850, essv5678616, essv5550698, essv5625334, essv5577567, essv6213477, essv6181273, essv5861933, essv6151442, essv6275840, essv6476705, essv5737443, essv6189894, essv6179808, essv5960036, essv5517455, essv6015794, essv5668619, essv5444751, essv6298680, essv5634525, essv6595559, essv5947558, essv5516840, essv5632258, essv5583496, essv6307641, essv5828188, essv5668705, essv6522077, essv5800258, essv6323699, essv5710804, essv6173054, essv6224789, essv6435218, essv6082368, essv6220906, essv6104412, essv5581768, essv5840634, essv5930208, essv5511356, essv6070652, essv6549556, essv5771630, essv6452676, essv5801817, essv5520625, essv6415846, essv6161932, essv6498025, essv5417794, essv5501229, essv5871768, essv5835543, essv5602764, essv5595621, essv6275776, essv5906320, essv5932035, essv6307182, essv6110030, essv6465557, essv5874315, essv5690733, essv5757346, essv5703845, essv5396941, essv6442371, essv5434638, essv5734849, essv6457815, essv6471146, essv6391729, essv5748241, essv6456592, essv6294088, essv6458375, essv5720908, essv5660626, essv6377988, essv6458860, essv5489297, essv6116927, essv6381671, essv6357774, essv6279045, essv5537950, essv5449444, essv5518809, essv6297188, essv6210945, essv5545822, essv6197562, essv5543362, essv6302748, essv6276615, essv6188510, essv5553885, essv5676731, essv6296534, essv6318641, essv6558352, essv5527376, essv5397806, essv6317309, essv6342721, essv5863298, essv6287324, essv6183620, essv5944187, essv6067029, essv6146418, essv6175080, essv5671829, essv5916235, essv6221957, essv5736932, essv6531716, essv5946335, essv5479480, essv6029718, essv5579520, essv5423780, essv6193076, essv6257661, essv5994324, essv6522642, essv5639298, essv5939058, essv5478331, essv6415227, essv6389453, essv6581323, essv6178669, essv6427945, essv6252714, essv6172547, essv5893971, essv6160013, essv5805496, essv5702971, essv5710514, essv6156808, essv6199907, essv5807019, essv6541840, essv6574033, essv6489845, essv5691450, essv6076350, essv5911078, essv5412656, essv5671368, essv5431417, essv6594182, essv6251768, essv5741998, essv5753239, essv5940508, essv5893024, essv5770957, essv5909617, essv5560791, essv5860296, essv6422239, essv5950292, essv6193672, essv5762256, essv5618713, essv5835491, essv5540347, essv6328736, essv5876704, essv6035984, essv6176751, essv5799298, essv5936668, essv5871037, essv6486033, essv6478238, essv6014263, essv6291667, essv5946394, essv6181141, essv6009823, essv5810656, essv6135940, essv6401583, essv6521198, essv6086039, essv6481838, essv5931186, essv5520273, essv6439381, essv5978340, essv6437606, essv6033778, essv6263114, essv5453026, essv5708253, essv6384540, essv6579037, essv6218792, essv6540106, essv5739976, essv5594604, essv5601665, essv6366556, essv5457468, essv5404125, essv5704583, essv6595212, essv6325957, essv5838594, essv5605825, essv6262256, essv6124345, essv5984082, essv6229835, essv5499737, essv6413941, essv6097954, essv6197773, essv5594060, essv5833034, essv5637796, essv5861292, essv6305524, essv6210792, essv6174499, essv5820773, essv6210113, essv6438193, essv6063494, essv5483243, essv5887799, essv5652781, essv5772713, essv5932761, essv6485164, essv6057340, essv6154789, essv6462579, essv6119484, essv5981807, essv6053782, essv6480028, essv6247081, essv6002316, essv5574283, essv5867040, essv6522305, essv6504765
SamplesHG01357, HG01441, NA19248, NA12154, NA18871, HG00328, HG00112, HG00274, HG00186, NA12347, NA19093, NA20796, HG00565, NA19311, NA11918, NA19469, NA19223, NA19435, HG01389, NA20296, NA18516, HG01365, HG00189, NA19788, NA19331, NA19453, HG01082, NA18953, HG01488, NA18517, HG00148, NA19920, NA12005, HG00139, NA18489, NA19379, NA12058, NA18507, NA20539, HG00111, NA19685, NA07051, HG00280, HG00335, HG01101, HG01134, NA19257, NA19682, HG00177, NA19701, NA19236, HG00319, NA20322, NA18505, NA19472, NA20803, HG00156, NA19761, HG01171, HG00353, NA18596, NA18949, NA18868, HG00554, HG01107, HG01550, NA19463, HG01148, NA20505, HG00242, NA11919, NA12763, HG01384, NA18967, NA19239, HG01375, NA19390, NA12004, HG01378, NA19917, NA20811, NA19675, HG00259, NA19197, HG00096, NA19471, HG01061, NA18617, NA18636, HG01124, NA19083, NA12273, NA20127, HG00315, NA12761, NA18956, NA19429, NA19908, HG00149, HG00338, NA18609, HG00125, NA11843, NA19985, NA11831, NA11894, HG01253, NA11995, NA18916, HG00174, HG01187, NA19457, NA12777, NA12234, NA19700, HG00343, NA12144, NA19082, NA20341, HG00662, NA19728, NA12751, NA19190, HG00306, NA19360, NA19725, HG00267, NA19380, HG01437, NA19786, NA07346, NA12716, NA19129, NA19771, HG00233, NA19372, HG01516, NA18633, NA19374, HG00640, NA20760, NA20348, HG00732, NA12778, NA19384, NA20790, HG00185, NA19102, HG00263, NA20753, NA12275, NA18510, HG00176, NA19664, HG00265, HG01170, HG01069, HG00249, HG00277, HG01351, NA20815, HG00740, HG01494, NA20542, NA20766, NA12283, NA19328, NA18910, HG01383, HG00377, NA19711, NA19789, HG00120, NA18940, NA19235, HG01094, NA12891, NA18987, HG01137, HG01190, NA19138, NA19376, NA12272, NA18909, NA19391, NA19723, NA20276, NA19009, NA20518, NA12889, NA19116, NA19431, NA20289, NA19747, NA20287, HG00118, NA18544, NA19818, HG00608, NA18614, HG00530, NA20317, NA11830, HG00123, HG00285, NA19225, NA12546, HG00142, HG01366, NA19732, NA18924, NA19371, NA19198, HG01108, NA18610, NA20758, NA12045, NA11932, NA11829, NA19130, HG01177, NA19240, NA19346, HG00119, HG01498, HG00275, NA12717, HG00641, HG00183, NA19350, NA18908, NA20806, HG00626, HG01377, HG00702, NA18555, NA19385, NA19661, HG00126, NA19466, HG01354, NA18553, HG00323, HG01515, HG00313, NA19152, NA19445, NA19625, HG00152, HG00734, HG01518, NA12249, NA18861, NA19436, NA20514, NA12748, NA11930, NA07037, NA19321, NA20522, NA20278, HG01250, NA20503, HG00100, HG01075, NA19404, HG00127, HG01055, HG00145, NA07056, NA18874, HG01342, NA18612, HG00731, HG00245, NA19783, NA19401, NA20508, HG00449, HG00310, HG00261, NA18511, HG01098, NA06989, NA20299, NA20294, NA20802, NA18948, NA19430, NA11931, NA19317, NA12813, HG00117, HG01492, NA19451, NA20529, NA19338, NA20342, HG00326, HG01491, NA20778, NA20786, HG00270, HG00553, NA19461, NA19210, NA19834, NA20588, HG01188, NA12776, HG01461, NA19678, HG00366, NA19108, HG00146, NA19474, NA12341, NA12044, HG01551, NA18873, NA19147, NA19776, NA19438, NA19654, NA20586, HG01133, HG01521, HG00256, NA18632, NA20770, HG00244, HG00266, HG00154, HG00321, HG00339, NA19914, NA20761, NA19067, NA19428, NA20585, NA19383, NA19982, NA20533, NA18624, NA18934, HG01140, NA18508, HG01456, NA20819, NA12282, NA19652, NA11994, NA19660, HG00638, NA12155, NA18960, NA07357, NA19900, NA19722, HG00231, NA20783, HG00372, HG01047, NA19396, NA20754, NA18856, HG00141, NA19397, HG00330, NA19398, NA19440, NA19066, NA20541, HG00150, HG00258, NA19256, HG01113, HG01136, NA18973, NA19835, NA20336, HG00637, HG00254, NA19663, NA19679, HG00403, NA20589, HG00237, HG00584, NA19316, NA20773, HG00114, NA12006, NA19213, NA19676, HG00159, NA19377, HG00124, HG00108, NA18537, NA19172, NA19759, NA12892, NA19703, NA20536, HG01066, NA19375, NA19393, NA20126, NA20512, NA19373, NA18498, NA18923, NA20826, NA18486, NA06986, NA18522, NA19238, NA20334, HG00147, NA20344, NA18502, NA19657, NA19713, NA18558, NA19901, HG00273, HG00282, HG00232, HG01176, HG01356, NA18504, NA19704, NA20814, HG00478, NA18487, NA18858, HG00116, NA19347, NA20774, NA19332, NA20582, HG00153, HG01070, NA19707, HG00246, NA18562, HG01060, NA19382, NA19318, NA18985, NA19462, HG01149, NA18582, NA18999, NA20537, HG00590, NA18983, NA18907, HG00181, NA19078, HG01334, NA20332, NA20799, NA06984, NA18867, NA19394, NA19403, HG00262, HG00580, HG01112, NA19719, NA19434, HG00311, NA19099, NA19446, NA19649, NA20513, NA18533, NA12003, NA19770, HG01464, NA19749, HG00281, NA19327, NA11993, NA12399, NA19717, NA12842, NA19655, NA19916, HG01251, NA19070, HG00367, HG01125, HG00251, NA20768, NA20528, NA18574, NA18853, HG01374, HG01522, HG00137, HG01102, HG01462, HG01489, NA19381, NA19473, NA20524, HG00143, NA19758, HG00336, NA19448, NA20517, NA20772, HG00345, NA19092, HG00278, NA19007, NA20519, NA19456, HG00136, NA18519, NA12775, HG01067, HG00361, HG01198, NA19012, NA11881, NA18621, HG00309, HG00537, HG00252, NA07347, NA19712, NA18520, NA18616, NA20771, HG00182, NA19904, NA20527, HG01353, NA19819, NA12342, NA19437, NA19114, HG01173, NA11920, HG00171, HG01083, NA20510, NA18501, HG00155, NA20531, HG00160, NA10847, NA18603, NA19319, HG01197, HG00657, NA19359, HG00614, HG01051
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


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer