A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666499



Internal ID9585918
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:230460579..230460922hg38UCSC Ensembl
chr2:231325294..231325637hg19UCSC Ensembl
Cytoband2q37.1
Allele length
AssemblyAllele length
hg38344
hg19344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6578669, essv5808671, essv5728552, essv5604950, essv6394065, essv5818377, essv6289009, essv5940475, essv6134140, essv5413456, essv5700035, essv6501092, essv5696113, essv6012688, essv5728422, essv6448699, essv5652841, essv5892879, essv5397839, essv6281228, essv6340905, essv6567743, essv6066340, essv6355802, essv6146151, essv6161524, essv5532265, essv6251535, essv5983604, essv6524849, essv5458888, essv6497896, essv6384271, essv6584825, essv6393144, essv5906454, essv6132177, essv5673637, essv6444985, essv6045362, essv6453245, essv6087669, essv5913334, essv6185150, essv5617809, essv6073620, essv5664923, essv6508422, essv5868604, essv6181090, essv5402174, essv5999517, essv6475685, essv5604308, essv5675457, essv6157670, essv5561765, essv5593500, essv5869423, essv5673937, essv5882938, essv6200972, essv5710437, essv6270470, essv5738591, essv6050953, essv5759208, essv6156174, essv6233368, essv6040213, essv6555428, essv5988265, essv6120181, essv5438356, essv5789242, essv5656101, essv5510914, essv5926034, essv6594602, essv6417362, essv6392419, essv5489253, essv5844786, essv6365006, essv5961036, essv5409180, essv6047041, essv6392024, essv6591556, essv5531081, essv5854176, essv6271306, essv6506153, essv5756864, essv6580299, essv5702917, essv5962023, essv6062906, essv6290743, essv5959417, essv6383486, essv6347950, essv5858215, essv5637748, essv6497358, essv6510356, essv5724338, essv6217711, essv5813422, essv5510173, essv6342694, essv5702186, essv5420912, essv6185028, essv6308851, essv5512421, essv5958228, essv6235072, essv6173280, essv5802632, essv5408631, essv5600798, essv5843475, essv6151770, essv5970515, essv6481103, essv6553524, essv6181309, essv5484599, essv5920294, essv5967953, essv5684840, essv5630951, essv6353032, essv5804959, essv5617624, essv5539008, essv5476523, essv6483381, essv5727463, essv6025574, essv5635424, essv6368613, essv5706540, essv5809948, essv5871610, essv6533085, essv5687625, essv6579320, essv6587844, essv5695162, essv6083992, essv6189842, essv6026619, essv5774320, essv6556106, essv6331980, essv5954702, essv6261737, essv6448780, essv6207982, essv5856351, essv5725505, essv5568812, essv5626992, essv5751945, essv6020214, essv6371109, essv6510211, essv5679291, essv5508835, essv6049709, essv6174608, essv6175081, essv5973582, essv5455686, essv5776983, essv5897436, essv6586779, essv6026211, essv5488064, essv6514406, essv5694878, essv6562396, essv5652911, essv5656894, essv6035114, essv6339414, essv5459158, essv6429431, essv6046981, essv5530691, essv5750347, essv6443320, essv6429270, essv6159201, essv6454316, essv6565276, essv5895672, essv6414615, essv5815088, essv5876357, essv5468235, essv6222279, essv6088323, essv5488936, essv6529651, essv5429207, essv6053235, essv6311905, essv5775064, essv6541140, essv6491532, essv5691643, essv6367843, essv5811580, essv6207608, essv6301354, essv5882148, essv6483733, essv6566704, essv6590482, essv5697644, essv6061524, essv5658036, essv6292011, essv6152585, essv6474852, essv5960307, essv6058529, essv6065149, essv6313963, essv6157181, essv5715352, essv5810199, essv5813783, essv5828516, essv6327357, essv5687684, essv6193747, essv5813203, essv6187995, essv5707118, essv5936426, essv6547191, essv5529207, essv5882659, essv6529760, essv6488456, essv6307242, essv6373309, essv5621541, essv6284508, essv6195981, essv5548098, essv5549548, essv6390464, essv6378043, essv6474941, essv5442909, essv6189167, essv5517297, essv6322669, essv6351459, essv5721646, essv5684310, essv6020365, essv5532745, essv5949247, essv6054175, essv5589400, essv6166732, essv6287847, essv5804994, essv5623030, essv5424349, essv6300973, essv5670763, essv6024024, essv5573698, essv5883759, essv6226143, essv6457341, essv5919096, essv5803834, essv5480653, essv6149712, essv5605108, essv6384613, essv6249804, essv5547335, essv5820194, essv6410304, essv6178477, essv6143940, essv6286441, essv6120044, essv5903721, essv5438066, essv6257956, essv6512659, essv5503118, essv6540516, essv5743227, essv5602654, essv5950891, essv6130243, essv5615679, essv5667620, essv6497453, essv6065676, essv6128267, essv5753885, essv5441668, essv6574561, essv5705879, essv5519481, essv6064375, essv5893126, essv5659102, essv5841566, essv6450276, essv5417269, essv5404493, essv5763765, essv5989594, essv6418580, essv5500819, essv5769338, essv6356254, essv6284794, essv5942911, essv6247020, essv6030438, essv5631227, essv6514497, essv6260261, essv6204371, essv6252193, essv5420202, essv6306657, essv6325306, essv6134490, essv6178890, essv6548009, essv6505481, essv5807013, essv6182962, essv5984578, essv5868960, essv5990827, essv6287647, essv6084036, essv6243527, essv5398606, essv5983690, essv5579812, essv5418649, essv6346634, essv5889089, essv5417898, essv5503917, essv5467067, essv5684051, essv5597655, essv6301050, essv5953410, essv5419100, essv5807302, essv5424019, essv5932186, essv6192767, essv5613713, essv5784655, essv5991927, essv6352742, essv5765399, essv6303555, essv6595479, essv6090756, essv6176776, essv6454028, essv6426876, essv5616969, essv5836606, essv5507442, essv5894025, essv5435308, essv6093835, essv5908043, essv6360646, essv5975497, essv5405823, essv5977778, essv5874801, essv6519047, essv5436287, essv6186661, essv5857905, essv5866764, essv5738231, essv6333119, essv6532728, essv6015277, essv5427390, essv6473974, essv6045411, essv6105807, essv5663293, essv6582885, essv5692037, essv6336885, essv5720500, essv6211462, essv6076500, essv5692569, essv6367729, essv5907312, essv6207325, essv6222277, essv5587939, essv6279677, essv5530894, essv6343465, essv5558160, essv6337386, essv5888063, essv6015605, essv5765101, essv5548913, essv6344906, essv6111404, essv6481795, essv6297688, essv5683477, essv5592382, essv5436416, essv5545219, essv6333901, essv6368318, essv5419972, essv5805396, essv6032233, essv6287979, essv6347618, essv6086058, essv5600774, essv5879426, essv6544597, essv5525302, essv6438364, essv5422081, essv6347489, essv6085695, essv5938793, essv5840973, essv6403708, essv5998953, essv5487493, essv5460232, essv5759660, essv5667271, essv5735882, essv5829608, essv6123887, essv6574973, essv6196987, essv5961722, essv6457620, essv6252671, essv6516261, essv5940261, essv6324781, essv6017651, essv6119833, essv5823501, essv6237040, essv5832713, essv6334801, essv5652673, essv5695569, essv5764403, essv6230399, essv6385988, essv6246855, essv6314149, essv5911401, essv6597801, essv6214192, essv5627627, essv5536830, essv5538939, essv6013310, essv6061659, essv5840334, essv6093076, essv5756926, essv6285334, essv5523600, essv6011270, essv5465320, essv6466120, essv5408442, essv5661989, essv5718549, essv6049551, essv5495264, essv5571736, essv6412875, essv6399789, essv6183341, essv6107601, essv6538346, essv5633929, essv5641302, essv6276775, essv5518233, essv6364316, essv6291624, essv6112201, essv6487945, essv6536229, essv6180569, essv6240491, essv5955462, essv5764699, essv6041337, essv5858009, essv5685948, essv5857582, essv6464749, essv6312903, essv5872340, essv6349467, essv5647913, essv5965656, essv6302940, essv6378417, essv5706010, essv6363377, essv6500283, essv6593288, essv6468960, essv5850124, essv6347800, essv5577800, essv6359272, essv5639174, essv6541817, essv6592302, essv6339432, essv6358948, essv5770747, essv5574570, essv6114846, essv5507653, essv5678920, essv5677116, essv6323908, essv6437160, essv5658303, essv6439079, essv6543701, essv5594532, essv5709496, essv6135015, essv6581370, essv5615775, essv5551215, essv6504654, essv5438825, essv5775924, essv5881638, essv5492978, essv6419166, essv6125498, essv5773492, essv6493529, essv6501061, essv6475883, essv5591164, essv6185559, essv6288045, essv6397275, essv5482828, essv5547432, essv5713637, essv6423814, essv5552288, essv5871484, essv5952874, essv5968818, essv6449247, essv5666589, essv6079452, essv6173060, essv6565079, essv5569132, essv5887349, essv5850487, essv6210770, essv5702760, essv6167112, essv6263277, essv6151366, essv6102816, essv5663124, essv5933798, essv5494763, essv6519784, essv6557678, essv5544258, essv6180477, essv5996317, essv6101075, essv5993582, essv6250021, essv5535694, essv5945097, essv5652804, essv5929185, essv6255967, essv5967200, essv6076087, essv6134149, essv5578513, essv6120875, essv6309227, essv5908360, essv5431939, essv6535359
SamplesHG01441, NA18870, NA19248, NA19312, NA12154, HG01440, HG00257, NA18951, NA18535, NA18871, NA12286, HG00551, HG00328, NA18523, NA20752, HG00705, HG00464, NA12347, NA19093, HG00131, NA20544, NA19311, NA11918, NA19469, NA20346, NA19435, HG01079, HG01389, HG00463, NA18516, HG01365, NA19334, NA19788, NA20800, HG01082, HG01488, NA18517, HG00542, NA18546, NA12058, NA18507, NA20805, HG00111, HG00581, HG00187, HG00404, HG00335, HG01101, NA19257, NA19701, NA20322, NA18505, NA19472, HG00156, NA18950, HG00353, NA18868, HG00158, HG01148, NA20505, NA11919, HG01384, NA19239, NA19076, HG01375, HG00421, NA12004, NA18635, HG00259, NA19197, NA19443, NA19471, HG01048, NA19107, NA20530, NA18636, HG01124, HG00315, NA12761, NA19908, HG00149, NA18609, HG00125, NA11843, NA11831, NA11894, NA12400, NA18637, NA20520, NA18916, HG00174, HG00634, NA18593, HG00243, HG00276, HG00284, HG01187, NA19457, NA12777, NA19700, HG00343, NA12144, NA19082, HG00662, NA12751, NA19190, NA19055, NA20769, HG00373, NA19247, NA19360, NA19725, HG00267, NA19313, NA19380, HG01111, NA19395, NA19786, HG01097, NA07346, NA12716, HG01465, NA19129, NA19189, NA19771, HG00233, NA19372, NA20291, HG00653, HG01191, NA19374, HG00640, NA20348, HG00732, NA12778, NA19384, HG00325, NA19716, HG00185, HG00263, NA20753, NA12275, NA19005, HG00176, NA19664, HG00265, HG00501, HG00672, HG01170, HG01069, HG00249, NA11892, NA18961, HG00277, HG01080, HG01351, NA20815, HG00740, NA20797, HG00524, HG01494, NA20542, NA19720, HG00534, HG00525, NA12283, NA18910, HG01383, HG00377, NA20813, NA19789, HG00236, HG00120, NA18940, NA19235, NA12891, NA12890, NA20525, HG01137, NA19921, HG01190, NA19138, NA19376, NA19729, NA12272, NA20756, HG01095, NA18909, NA19391, NA19723, NA20276, NA12413, NA20518, NA12889, NA19116, NA18631, NA20289, NA19747, NA20287, HG00118, NA18544, HG00654, HG01390, NA12878, HG00530, NA18548, NA11830, HG00123, HG00285, HG00142, HG01366, NA18499, NA18924, NA19371, NA20543, HG00708, HG01108, NA18610, NA12045, NA19315, NA11829, NA19130, HG01177, NA19240, NA19346, HG00320, HG01498, HG00275, HG00625, NA12717, HG00641, NA19350, NA20804, NA20806, HG00626, NA18615, HG00704, NA19385, HG00271, NA19661, HG00126, NA19466, HG01354, HG00323, NA20281, NA12827, NA18964, HG01515, HG00313, NA12043, NA19445, HG00734, HG01359, HG01518, NA12249, NA18861, NA19436, HG00318, HG00536, HG00607, NA12750, NA12748, NA11930, NA07037, NA19321, NA20522, NA20278, HG01250, NA20503, HG01072, NA20785, HG01052, HG01075, NA18561, NA20506, NA19404, HG00127, HG01055, HG01342, NA20516, HG00369, NA18612, HG00245, HG00596, NA19401, HG00736, NA20508, HG00310, NA18570, NA19003, NA19072, HG00261, HG00707, NA18511, NA19455, NA06989, NA20299, NA12340, NA20294, NA20802, NA20775, NA19430, NA19670, NA11931, NA19317, HG01492, NA20816, NA19010, HG00375, HG00173, HG00326, HG01491, NA20786, NA18542, HG00270, HG00553, HG00122, NA19210, HG00701, NA19834, NA20588, HG01188, HG01204, NA19648, HG00651, HG00557, HG00578, NA19108, HG00331, HG00146, NA18965, NA18488, NA19355, NA12044, NA19467, NA18873, NA19147, NA19776, NA19438, NA19654, NA20586, HG00247, HG01133, HG00256, HG00342, HG00244, HG00266, HG00635, NA19762, HG00543, NA18559, HG00321, HG00339, NA19726, NA19914, NA19428, NA20585, NA18912, NA19383, NA12843, HG00250, NA18508, NA19054, NA20515, NA18566, HG00337, NA11994, NA19057, NA19068, HG00638, NA12155, HG00180, NA18563, NA18618, NA07357, NA19900, NA20504, NA20757, HG00231, NA20801, HG01047, HG00689, NA19396, NA20754, NA18856, HG00141, NA19397, HG00330, NA07048, NA19398, NA19440, NA19066, NA11933, NA20541, HG00150, NA19774, HG00258, NA12829, NA19256, HG01136, NA19835, NA20282, NA20336, HG00264, NA19773, HG00637, NA18982, NA19681, NA19663, NA19679, HG00403, HG00357, NA18634, HG00237, NA19316, NA19684, HG00133, NA20773, NA12006, NA19213, NA19676, HG00436, HG00159, HG00124, NA12046, NA19785, HG00108, NA18620, NA19172, NA19759, NA12892, NA19703, HG00268, HG01066, NA19375, NA19393, NA20126, NA20512, NA19373, NA18498, NA18486, NA06986, NA18522, NA19238, HG01455, NA20334, NA20344, HG00260, NA18502, NA19657, NA19731, HG01073, NA18558, HG00239, NA19901, HG00273, HG00232, NA18504, NA19704, NA20818, HG00478, NA18858, NA19347, NA20828, NA19332, NA19909, NA18613, HG00513, NA20582, NA18988, HG00329, HG01070, NA19707, HG00246, HG01060, NA19382, NA18579, NA19318, NA19462, HG00589, NA18945, HG01149, NA18543, HG00151, NA10851, NA18582, HG00590, NA18552, NA18983, NA18599, NA18907, NA18567, HG01334, NA12749, NA20332, NA20799, NA06984, NA18867, NA19394, NA19403, HG00138, NA12156, HG00262, NA18560, NA18989, HG00580, HG01112, NA19719, NA19434, HG00448, NA19099, NA19446, NA20509, NA19452, NA20507, NA20513, NA11992, NA12003, NA19770, HG00281, NA18917, NA12399, NA19399, NA19717, NA20812, HG00656, NA12842, NA19655, NA19916, HG01251, NA19070, HG01125, HG00251, NA20768, HG00324, NA20528, NA18532, NA18549, NA18574, NA18853, HG01374, HG01522, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, NA19473, NA20524, HG00684, NA19448, NA20502, NA20517, NA20772, HG00272, HG00345, NA19092, HG00278, NA19007, NA19456, HG00136, NA18519, NA07000, NA18980, HG01067, NA19439, NA11881, HG00309, NA12489, HG00252, NA07347, NA20787, NA19712, NA18520, NA19904, NA20527, NA18534, HG01353, HG00418, HG01519, NA19819, NA12342, NA19437, NA19114, HG01173, NA11920, HG01083, NA20510, NA18501, NA18526, NA20535, NA20531, HG00160, NA10847, NA18545, NA18603, NA19319, NA20759, HG01197, NA19359, HG01051, HG01174, NA19449, HG00148, NA19920, NA18489, NA19379, NA07051, HG00280, HG01134, NA19682, NA20798, HG00737, NA20755, NA12287, NA19761, NA18628, NA18949, HG00269, NA19077, HG01107, HG01550, NA19463, HG00346, NA19390, HG01378, NA19917, NA18622, HG01061, HG01183
Known GenesSP100
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666499
Frequency
Sample Size1151
Observed Gain0
Observed Loss631
Observed Complex0
Frequencyn/a


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