A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588720



Internal ID6976136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:210549121..210551537hg38UCSC Ensembl
Innerchr1:210549121..210551537hg38UCSC Ensembl
Outerchr1:210549121..210551537hg38UCSC Ensembl
chr1:210722465..210724881hg19UCSC Ensembl
Innerchr1:210722465..210724881hg19UCSC Ensembl
Outerchr1:210722465..210724881hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg382417
hg192417
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10284580, essv10285103, essv10285056, essv10285154, essv10284862, essv10285013, essv10284959, essv10284651, essv10285021, essv10284853, essv10285088, essv10284780, essv10284893, essv10284772, essv10284922, essv10284988, essv10285006, essv10284942, essv10285090, essv10284936, essv10284689, essv10285126, essv10284930, essv10284879, essv10284643, essv10284571, essv10284596, essv10284663, essv10284881, essv10285057, essv10284820, essv10284714, essv10284992, essv10284804, essv10284655, essv10285066, essv10284707, essv10285071, essv10284972, essv10284566, essv10285146, essv10285031, essv10284969, essv10285171, essv10284662, essv10285117, essv10285095, essv10285116, essv10285099, essv10284872, essv10285188, essv10285062, essv10284738, essv10285010, essv10284747, essv10285169, essv10284753, essv10284649, essv10284622, essv10284557, essv10284909, essv10285128, essv10285052, essv10284617, essv10285145, essv10285074, essv10285068, essv10284869, essv10284593, essv10285196, essv10284619, essv10285157, essv10285168, essv10284783, essv10284773, essv10284629, essv10285102, essv10284581, essv10284991, essv10284891, essv10284895, essv10284810, essv10285104, essv10284987, essv10284635, essv10285085, essv10285140, essv10284791, essv10284696, essv10284886, essv10284798, essv10285018, essv10284690, essv10284926, essv10285160, essv10284618, essv10284760, essv10284695, essv10284717, essv10285005, essv10285036, essv10285008, essv10284823, essv10284762, essv10284726, essv10284802, essv10284813, essv10285155, essv10284908, essv10284588, essv10284756, essv10285153, essv10284876, essv10284567, essv10285081, essv10285042, essv10284811, essv10284807, essv10284974, essv10284884, essv10285033, essv10285200, essv10284654, essv10284631, essv10284905, essv10284947, essv10284944, essv10284590, essv10284681, essv10284878, essv10284871, essv10284652, essv10284800, essv10284938, essv10284718, essv10284678, essv10284854, essv10284982, essv10285051, essv10285120, essv10284767, essv10285089, essv10284837, essv10284676, essv10284789, essv10284954, essv10284912, essv10284752, essv10284720, essv10284816, essv10284737, essv10284656, essv10285170, essv10284701, essv10284898, essv10284994, essv10284587, essv10284970, essv10284657, essv10285004, essv10284961, essv10284993, essv10284703, essv10284605, essv10284864, essv10284683, essv10285175, essv10285046, essv10284856, essv10284817, essv10285122, essv10284803, essv10285075, essv10284706, essv10284826, essv10285037, essv10285015, essv10284627, essv10284563, essv10284840, essv10284829, essv10285024, essv10284875, essv10284785, essv10285011, essv10284719, essv10284710, essv10284799, essv10284952, essv10284599, essv10284890, essv10284770, essv10284846, essv10284584, essv10284978, essv10285054, essv10284852, essv10284735, essv10285180, essv10284976, essv10285061, essv10284671, essv10284644, essv10284607, essv10285134, essv10285199, essv10285130, essv10284647, essv10284995, essv10284610, essv10284949, essv10285094, essv10285019, essv10285149, essv10284624, essv10285060, essv10285192, essv10284674, essv10284709, essv10284672, essv10285014, essv10284801, essv10284628, essv10284601, essv10284883, essv10285000, essv10284888, essv10284744, essv10285123, essv10284749, essv10284929, essv10285001, essv10284975, essv10284731, essv10285079, essv10284784, essv10285189, essv10284765, essv10284781, essv10284911, essv10284716, essv10285110, essv10285105, essv10285044, essv10284665, essv10285166, essv10284602, essv10285003, essv10284766, essv10284913, essv10284721, essv10284794, essv10284715, essv10284670, essv10284910, essv10285112, essv10284664, essv10285158, essv10284606, essv10285198, essv10284855, essv10284569, essv10285040, essv10284661, essv10285101, essv10284945, essv10284705, essv10284979, essv10284687, essv10284612, essv10285181, essv10285159, essv10285141, essv10284983, essv10284865, essv10285109, essv10284556, essv10284788, essv10285078, essv10284660, essv10285100, essv10284900, essv10284903, essv10284704, essv10284960, essv10285194, essv10284902, essv10284636, essv10284776, essv10285097, essv10285041, essv10284637, essv10285131, essv10285178, essv10284956, essv10284771, essv10285139, essv10284638, essv10284825, essv10284764, essv10284603, essv10285185, essv10285152, essv10285012, essv10285163, essv10285058, essv10284833, essv10284614, essv10284728, essv10284775, essv10284579, essv10285147, essv10285174, essv10285034, essv10284750, essv10285156, essv10284851, essv10285002, essv10284669, essv10284943, essv10285148, essv10285064, essv10284632, essv10284564, essv10284957, essv10284925, essv10284822, essv10284755, essv10284616, essv10284842, essv10284640, essv10284577, essv10285055, essv10284790, essv10284694, essv10284984, essv10284582, essv10284565, essv10284996, essv10285202, essv10284675, essv10284645, essv10285118, essv10285121, essv10284787, essv10285084, essv10284918, essv10285043, essv10284795, essv10284980, essv10285083, essv10285063, essv10284937, essv10284586, essv10284889, essv10284924, essv10284951, essv10284950, essv10284702, essv10285108, essv10285082, essv10284836, essv10284572, essv10284892, essv10285125, essv10284914, essv10284742, essv10285142, essv10284648, essv10284805, essv10284686, essv10284592, essv10284874, essv10284850, essv10284934, essv10285030, essv10284964, essv10284713, essv10284729, essv10285124, essv10285177, essv10284977, essv10284971, essv10284758, essv10284723, essv10285069, essv10284904, essv10284899, essv10284634, essv10285151, essv10284821, essv10284830, essv10284668, essv10284642, essv10284698, essv10284873, essv10284827, essv10285107, essv10284948, essv10284743, essv10285176, essv10284688, essv10285133, essv10285193, essv10284736, essv10284880, essv10284828, essv10284659, essv10284860, essv10285027, essv10284824, essv10284845, essv10284839, essv10284576, essv10284989, essv10284940, essv10284921, essv10284849, essv10284777, essv10284894, essv10284746, essv10284724, essv10284680, essv10284857, essv10285009, essv10284679, essv10285045, essv10284917, essv10285203, essv10284769, essv10284562, essv10284598, essv10285137, essv10284818, essv10284838, essv10284757, essv10284725, essv10284928, essv10285072, essv10284712, essv10284786, essv10284906, essv10284867, essv10285179, essv10284611, essv10285164, essv10285007, essv10285136, essv10284621, essv10284896, essv10285080, essv10284761, essv10285020, essv10284920, essv10284691, essv10285077, essv10284583, essv10284722, essv10285076, essv10284594, essv10284763, essv10285129, essv10285091, essv10284555, essv10284646, essv10285113, essv10285025, essv10284835, essv10284990, essv10284844, essv10284967, essv10284935, essv10284589, essv10284574, essv10285205, essv10285029, essv10285022, essv10285049, essv10284778, essv10284847, essv10284814, essv10284774, essv10284745, essv10285096, essv10285065, essv10284953, essv10285098, essv10284812, essv10284858, essv10284608, essv10284866, essv10284620, essv10284700, essv10284591, essv10284927, essv10284859, essv10284615, essv10284815, essv10284595, essv10284568, essv10284560, essv10285106, essv10284741, essv10284597, essv10285119, essv10285053, essv10284748, essv10284604, essv10285191, essv10284759, essv10285143, essv10285150, essv10285035, essv10285132, essv10284697, essv10284561, essv10284832, essv10284793, essv10284578, essv10284863, essv10284682, essv10284907, essv10284684, essv10284613, essv10285173, essv10285059, essv10284768, essv10284848, essv10285187, essv10284740, essv10284734, essv10285184, essv10284559, essv10285028, essv10284941, essv10284877, essv10284843, essv10285183, essv10284955, essv10284751, essv10284870, essv10284685, essv10284999, essv10284808, essv10284819, essv10284633, essv10284958, essv10284932, essv10285190, essv10284573, essv10284939, essv10284732, essv10285087, essv10285195, essv10284673, essv10285114, essv10285093, essv10285197, essv10284658, essv10285167, essv10285017, essv10284677, essv10285092, essv10284630, essv10284809, essv10284968, essv10284986, essv10284733, essv10285138, essv10284933, essv10284667, essv10284626, essv10284797, essv10284609, essv10284868, essv10284653, essv10284711, essv10284985, essv10284625, essv10285182, essv10285067, essv10285050, essv10285038, essv10284915, essv10284897, essv10285186, essv10284916, essv10284708, essv10284887, essv10284882, essv10284792, essv10284641, essv10284796, essv10285165, essv10285162, essv10284575, essv10284754, essv10284965, essv10284861, essv10284806, essv10284831, essv10285047, essv10284973, essv10285016, essv10285161, essv10284885, essv10285172, essv10285073, essv10285023, essv10284946, essv10284558, essv10284782, essv10285135, essv10284730, essv10284623, essv10285127, essv10285115, essv10284997, essv10284931, essv10284923, essv10285204, essv10284639, essv10284699, essv10285032, essv10284739, essv10285086, essv10284841, essv10284650, essv10284727, essv10284981, essv10284834, essv10284693, essv10284692, essv10284570, essv10284666, essv10284963, essv10284998, essv10285026, essv10284966, essv10285144, essv10285201, essv10284600, essv10284962, essv10284901, essv10284585, essv10285111, essv10285039, essv10284919, essv10285048, essv10285070, essv10284779
SamplesNA18502, HG01485, NA20339, HG03593, HG00650, NA19058, HG02496, HG01918, HG01965, HG00608, NA18621, HG01031, HG04222, NA18999, HG02798, HG00729, HG03455, HG02017, NA20864, HG03193, HG02154, HG02356, NA19067, HG00589, NA19315, HG02069, HG02156, HG04206, NA18993, NA18547, NA18960, NA18618, NA18574, HG02299, NA11918, HG01063, NA19079, NA18949, HG02131, HG04033, HG04183, NA19720, HG00632, NA20775, NA18868, HG03212, HG02389, HG01849, NA19172, HG02178, HG01950, HG00406, NA18985, HG03073, HG00323, HG02409, HG01967, HG01851, HG02134, HG01565, HG01164, HG00137, HG02943, NA18951, NA20892, NA18605, HG01847, NA18538, HG01867, HG03685, NA19070, NA19056, HG03088, HG02142, HG01857, HG02380, HG01095, HG00657, NA19717, NA19663, HG03711, HG01845, NA19081, HG01498, HG03775, HG02728, NA18572, NA18948, HG04177, NA18981, NA19064, NA18548, HG03823, HG01047, HG00690, HG00404, HG02445, HG00331, HG02121, HG03446, HG02141, NA18532, HG01130, HG03024, NA19009, NA19682, HG03006, HG02286, HG02332, HG00099, HG02127, HG00376, HG03934, HG03720, NA19729, NA18517, HG04026, NA18564, HG03875, HG02308, HG02088, NA18628, HG03458, NA12873, HG02391, NA19010, HG01866, NA18615, HG03103, HG02771, HG01861, NA19117, HG00614, HG02373, HG00478, NA18631, HG03157, HG02401, HG01935, NA19779, HG03849, HG02079, HG01799, NA18609, HG02768, HG01269, NA19770, HG02291, HG01794, HG00274, HG02353, NA18989, NA19011, HG00628, HG02643, NA18612, HG00581, HG03271, HG02760, NA18998, HG01060, HG03559, NA19648, HG01795, NA20853, NA19055, HG03652, NA19397, NA18924, HG01303, HG03960, NA18592, NA18561, HG04202, NA19704, NA19734, NA18599, HG02275, NA18641, HG02061, HG02360, HG01305, HG02476, HG00699, NA19819, HG02277, HG02394, HG03172, HG01809, NA19068, NA19746, HG01341, NA19076, HG02151, NA18489, HG02407, NA19723, NA18635, HG00458, NA20769, HG02549, HG00634, HG01816, HG00610, HG02655, HG02374, HG01354, NA18498, HG04131, HG01848, HG00590, HG03830, HG03793, NA19922, HG03868, HG01893, HG01134, HG02703, HG02395, HG02315, HG01046, NA18617, HG03624, HG03777, NA19087, HG02138, NA19189, HG03583, NA18973, HG03369, HG00530, HG00419, HG03884, HG03169, HG01136, HG03780, HG02166, HG00560, NA18613, NA19657, HG00183, HG00982, HG04225, HG01797, HG02334, NA19077, HG02697, HG02090, HG00428, NA19347, NA20536, NA19391, HG02076, HG01938, HG01810, HG00584, HG02307, HG00500, HG01880, NA18976, HG02497, HG01852, HG02789, HG03202, HG02494, HG01197, HG02008, HG04155, HG01383, NA19001, HG03571, HG03854, HG02081, HG02725, HG01865, NA18536, HG02408, HG02399, HG01990, HG02255, NA18978, HG02613, HG00476, NA18952, HG02759, HG02064, HG01598, HG01951, HG00607, NA19310, HG01260, NA18591, HG04003, HG03681, HG03019, NA20887, HG02181, HG01801, NA19078, HG00707, HG00672, HG00446, HG04015, HG01917, HG00409, HG03646, NA18987, HG02032, HG01085, HG02410, NA18972, NA18552, NA18984, HG03922, NA19004, HG04161, HG00759, NA18549, HG01191, HG00437, HG01976, NA12383, NA19701, HG00542, HG03484, HG02481, HG01462, NA18861, NA10851, HG00559, NA20783, HG02375, HG03111, HG04158, HG01815, HG00766, HG02029, HG02078, HG03115, NA18639, HG01806, HG03298, HG01802, NA18959, NA18616, HG00449, HG00654, NA20356, HG03478, HG00693, NA18988, NA18969, NA18627, HG03009, HG02792, HG00663, HG03133, HG00641, NA18940, HG02105, HG02952, HG01277, HG00674, HG00599, HG02146, HG02383, HG01168, HG01968, HG02266, HG02301, HG02054, HG01840, HG00334, HG00451, HG02981, HG02278, HG01080, HG00867, NA20278, HG03888, HG00534, NA19235, NA18748, HG02190, NA20889, NA18990, HG02427, HG01198, HG02260, HG01048, HG01058, HG01121, HG04075, HG02164, NA19027, HG00743, NA18645, HG02047, NA19908, HG00443, NA19091, NA18525, HG02075, NA19403, HG03990, NA19086, NA18933, HG04195, HG00132, HG01941, NA18579, HG01345, HG01077, HG02508, HG02165, HG01149, NA18534, HG03027, HG01029, HG04235, NA19654, NA18573, HG02429, NA21124, HG00531, HG03713, HG01870, HG03802, HG03388, HG00684, HG02657, HG03643, HG01593, NA18553, HG02783, HG03969, NA19761, HG03672, HG00864, NA18570, NA18541, HG01075, NA19012, NA18974, HG03064, NA18953, HG02660, HG00407, HG01812, HG04006, HG01980, HG00625, NA19747, HG01878, HG02790, HG01685, HG02304, HG01939, HG01396, NA20790, HG00473, HG02179, NA20902, HG03304, HG01137, HG02019, NA18610, HG02558, HG00620, NA18501, NA06994, HG01868, NA19716, HG01846, HG01302, NA20852, NA19093, NA18636, NA20786, HG00280, HG02681, HG00728, NA19900, HG02774, NA20502, NA19430, NA18957, HG01111, NA19316, NA18968, NA19463, NA19063, NA18740, NA19214, HG03166, HG00403, HG04212, NA21110, HG03857, NA21097, HG01098, HG00536, HG02583, HG03548, HG02298, HG01860, NA18917, HG04002, HG02870, NA18545, HG00364, NA18596, HG01944, HG00566, NA18606, HG00179, HG00879, HG03836, HG02895, HG02023, NA18967, NA19792, NA19005, NA18944, HG03705, NA19762, HG01853, NA19448, HG02485, HG01997, NA19198, NA18619, NA20905, HG03905, HG02130, HG00851, NA19088, NA19138, HG01982, NA18964, HG02786, HG03079, NA18611, HG01067, NA18874, HG03968, HG02512, HG02573, NA19317, HG01932, HG02180, NA19456, NA18975, NA18640, HG01942, NA18614, HG01183, HG03902, HG02977, HG02439, HG02265, HG03908, HG03054, NA19437, HG01841, HG01187, HG00596, HG01595, HG02513, NA20505, HG00653, NA18956, HG01162, HG00701, HG02108, NA20895, NA18939, NA18516, HG03428, HG01989, HG00598, NA18637, HG03945, NA20126, NA19658, HG02968, HG02470, NA18630, HG02537, HG01049, HG00708, HG02364, HG01447, HG01390, NA20299, HG03382, NA19113, HG02086, HG00613, HG00525, HG03745, HG02184, HG01890, HG02031, NA18945, NA19436, HG01992, NA18542, NA18909, HG03809, HG03240, HG02049, NA18941, HG01958, HG02923, HG01494, NA19439, HG01974, NA18643, NA19741, HG02139, NA19085, HG03108, HG01862, HG04141, HG02398, HG03565, HG00656, HG02392, HG01055, HG01817, HG01872, HG02186, HG02051, HG02028, HG01378, NA19755, HG03856, HG02425, NA18522, HG03931, HG03698, HG03129, HG02006, HG01923, HG01578, HG03686, HG00978, NA18562, NA18965, HG03886
Known GenesHHAT
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588720
Frequency
Sample Size2504
Observed Gain0
Observed Loss651
Observed Complex0
Frequencyn/a


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