A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623768



Internal ID6663935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:70688979..70691587hg38UCSC Ensembl
Innerchr10:70688979..70691587hg38UCSC Ensembl
Outerchr10:70688762..70691805hg38UCSC Ensembl
chr10:72448735..72451343hg19UCSC Ensembl
Innerchr10:72448735..72451343hg19UCSC Ensembl
Outerchr10:72448518..72451561hg19UCSC Ensembl
Cytoband10q22.1
Allele length
AssemblyAllele length
hg382609
hg192609
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13858911, essv13858878, essv13859138, essv13858761, essv13858680, essv13858646, essv13858682, essv13859140, essv13858665, essv13858649, essv13859122, essv13859077, essv13859067, essv13858651, essv13858965, essv13858879, essv13859076, essv13858896, essv13858641, essv13858834, essv13858928, essv13858998, essv13858722, essv13858677, essv13858920, essv13858760, essv13858718, essv13858731, essv13859064, essv13858738, essv13859106, essv13858939, essv13858967, essv13858949, essv13859062, essv13859080, essv13858784, essv13858980, essv13859040, essv13859093, essv13858817, essv13858692, essv13858753, essv13858830, essv13858788, essv13858886, essv13858823, essv13858856, essv13859142, essv13858944, essv13858918, essv13859151, essv13858842, essv13859061, essv13858827, essv13858657, essv13859010, essv13858906, essv13859085, essv13859033, essv13859028, essv13858833, essv13858840, essv13858769, essv13858749, essv13858814, essv13858941, essv13858687, essv13858905, essv13859099, essv13858846, essv13858707, essv13858870, essv13859046, essv13858746, essv13858843, essv13859078, essv13858863, essv13858867, essv13858804, essv13858983, essv13859150, essv13858989, essv13858855, essv13858948, essv13858835, essv13858710, essv13858996, essv13858779, essv13858981, essv13858700, essv13858988, essv13858632, essv13858729, essv13858935, essv13858986, essv13858947, essv13859104, essv13859075, essv13859029, essv13858785, essv13858872, essv13858916, essv13858704, essv13858977, essv13858798, essv13858838, essv13858724, essv13858696, essv13859041, essv13858848, essv13859126, essv13858933, essv13859019, essv13859084, essv13859116, essv13858821, essv13859157, essv13858660, essv13859121, essv13859134, essv13859007, essv13858925, essv13858975, essv13858900, essv13858709, essv13858741, essv13859120, essv13858758, essv13858950, essv13858689, essv13858670, essv13858780, essv13859115, essv13858915, essv13858963, essv13858625, essv13859125, essv13858910, essv13858623, essv13858717, essv13858943, essv13858708, essv13858626, essv13859108, essv13859074, essv13858819, essv13859000, essv13859127, essv13858862, essv13858887, essv13858759, essv13858904, essv13858865, essv13859114, essv13858995, essv13858924, essv13858882, essv13858991, essv13858831, essv13858825, essv13858854, essv13858740, essv13858776, essv13858773, essv13858659, essv13858735, essv13858851, essv13859154, essv13859020, essv13858671, essv13858701, essv13858927, essv13858861, essv13858926, essv13858783, essv13858694, essv13858966, essv13858946, essv13859013, essv13858955, essv13858800, essv13858637, essv13858638, essv13858775, essv13859109, essv13859158, essv13858787, essv13858768, essv13859123, essv13858893, essv13859095, essv13858684, essv13859049, essv13858622, essv13858628, essv13859113, essv13858752, essv13859100, essv13858952, essv13858772, essv13858832, essv13859133, essv13858750, essv13858732, essv13858845, essv13858777, essv13859068, essv13858956, essv13858820, essv13859044, essv13858712, essv13858676, essv13859035, essv13858987, essv13858945, essv13859014, essv13858837, essv13859088, essv13858847, essv13859102, essv13859117, essv13859009, essv13859082, essv13858778, essv13858824, essv13858744, essv13858754, essv13858874, essv13858850, essv13858917, essv13858716, essv13858655, essv13858809, essv13858869, essv13858664, essv13858844, essv13858743, essv13858636, essv13858762, essv13858688, essv13859144, essv13858727, essv13858985, essv13858634, essv13859094, essv13859119, essv13858957, essv13859011, essv13858667, essv13859096, essv13859030, essv13859087, essv13859005, essv13858739, essv13859092, essv13859072, essv13859107, essv13858662, essv13858642, essv13858656, essv13858866, essv13859001, essv13859053, essv13858818, essv13859003, essv13859048, essv13859002, essv13858921, essv13859091, essv13858683, essv13858666, essv13858789, essv13858922, essv13858902, essv13858888, essv13858913, essv13858982, essv13858841, essv13858954, essv13859141, essv13859052, essv13858698, essv13858997, essv13858990, essv13858914, essv13858929, essv13859081, essv13858829, essv13858725, essv13859155, essv13858767, essv13858859, essv13858723, essv13859036, essv13859128, essv13858672, essv13859016, essv13858930, essv13858876, essv13859057, essv13858807, essv13859006, essv13858923, essv13859136, essv13859101, essv13858793, essv13858748, essv13858663, essv13859025, essv13858959, essv13858816, essv13858678, essv13858647, essv13858745, essv13859054, essv13858795, essv13859132, essv13859065, essv13858648, essv13858726, essv13859089, essv13859148, essv13858764, essv13858813, essv13858897, essv13858631, essv13859004, essv13859026, essv13858993, essv13858931, essv13858703, essv13858797, essv13858796, essv13859038, essv13859090, essv13859034, essv13858890, essv13859083, essv13858728, essv13859111, essv13858962, essv13858839, essv13858979, essv13858994, essv13858974, essv13858919, essv13858899, essv13858756, essv13858791, essv13858763, essv13859143, essv13858972, essv13859070, essv13858699, essv13859017, essv13858736, essv13858907, essv13858836, essv13858621, essv13858871, essv13858737, essv13858705, essv13858892, essv13858730, essv13858719, essv13859037, essv13858681, essv13858658, essv13858747, essv13858653, essv13858880, essv13859022, essv13858852, essv13858770, essv13859066, essv13858801, essv13858661, essv13858675, essv13859124, essv13859045, essv13858781, essv13858822, essv13859059, essv13859145, essv13858721, essv13859008, essv13858635, essv13858714, essv13859131, essv13858774, essv13858909, essv13859047, essv13858812, essv13858668, essv13858960, essv13859137, essv13859043, essv13858984, essv13859031, essv13859051, essv13859012, essv13858766, essv13858940, essv13858826, essv13858720, essv13858999, essv13858693, essv13859118, essv13858630, essv13858674, essv13859058, essv13858942, essv13858715, essv13859098, essv13858786, essv13858895, essv13858806, essv13859055, essv13858885, essv13858702, essv13858891, essv13858853, essv13858669, essv13859112, essv13858884, essv13858992, essv13859146, essv13858828, essv13858973, essv13858643, essv13859105, essv13858883, essv13858792, essv13859063, essv13859147, essv13859079, essv13859050, essv13859097, essv13858903, essv13859024, essv13858938, essv13859129, essv13858936, essv13858970, essv13859027, essv13859156, essv13858639, essv13859103, essv13858857, essv13859032, essv13858690, essv13859153, essv13859056, essv13858849, essv13858964, essv13858695, essv13858901, essv13859039, essv13859069, essv13858953, essv13858877, essv13858894, essv13858640, essv13858691, essv13859152, essv13858810, essv13858908, essv13858868, essv13858645, essv13859149, essv13859073, essv13858978, essv13858858, essv13858811, essv13858652, essv13858733, essv13859071, essv13858898, essv13858627, essv13859086, essv13858713, essv13858697, essv13858802, essv13858968, essv13858734, essv13858971, essv13858805, essv13858624, essv13858706, essv13858654, essv13858633, essv13858934, essv13858860, essv13858771, essv13859110, essv13858873, essv13858673, essv13859023, essv13859042, essv13858650, essv13858755, essv13859135, essv13858958, essv13858881, essv13858803, essv13858889, essv13859139, essv13858961, essv13858912, essv13858685, essv13858976, essv13858937, essv13858751, essv13858932, essv13858799, essv13858742, essv13859130, essv13858711, essv13858875, essv13858765, essv13859015, essv13858679, essv13858815, essv13858790, essv13859021, essv13858686, essv13858629, essv13858808, essv13858782, essv13858969, essv13858951, essv13858794, essv13859060, essv13859018, essv13858864, essv13858757, essv13858644
SamplesNA20588, HG00189, HG01918, HG00142, NA19664, HG00384, NA12843, NA11920, HG03717, HG04076, NA12751, NA20864, HG02688, HG02356, NA21128, HG01704, HG03679, NA12750, NA20806, NA20894, HG00337, HG00717, HG03603, HG00138, HG03645, HG01350, NA20798, HG01177, HG01167, HG04206, NA20756, HG00129, HG01492, HG03874, NA20768, HG01063, HG01365, HG00311, HG00243, HG00158, HG04033, HG00281, NA20759, HG04183, HG03817, NA19720, HG01519, NA20812, HG02597, HG03947, NA19036, HG01771, HG00323, NA20515, HG01851, HG02134, HG01122, HG03907, NA12878, NA20521, HG01684, HG03928, NA19663, HG02731, HG03491, HG01845, HG00344, NA19081, NA20519, NA20832, HG00692, HG03823, NA18879, NA20901, NA12829, NA11893, NA21112, HG04173, NA06989, HG01334, NA19682, HG02286, NA12778, HG04118, HG00126, HG01107, HG04200, HG03934, NA20799, NA19652, NA19440, NA18533, HG04026, HG03708, HG02308, HG03920, NA19331, NA20520, HG01174, HG02232, HG01866, NA21095, NA19428, HG00116, NA19360, NA12347, HG03703, HG03103, NA20897, HG03600, HG00614, HG02971, NA19785, HG00267, HG01631, HG02182, NA20826, HG02348, HG01914, NA20503, HG00595, NA20827, NA19065, HG03985, NA18577, NA11832, HG01507, NA20762, HG03690, HG01060, HG00235, HG01054, NA19794, NA11995, NA12814, HG01359, HG01348, HG03821, HG04194, HG02648, HG04202, NA11933, HG03589, HG03015, HG01305, NA12004, HG00341, HG04001, NA12341, HG01924, HG01250, HG01341, HG01503, HG00109, HG03757, HG01064, HG00173, NA20900, HG01710, HG00736, NA19649, HG03105, NA12287, NA20513, NA20541, NA19038, HG03793, NA12761, HG00277, NA12005, HG02493, NA19651, HG00120, HG02224, HG00236, HG00262, HG01527, HG01176, NA12889, NA20764, NA12828, HG03369, NA12748, HG00108, HG01699, HG01603, NA20818, HG02402, HG00149, HG02136, HG01360, NA20787, HG04225, HG03787, NA12342, HG00428, HG01790, NA20536, HG02076, HG01612, HG04162, HG02554, HG02497, NA19776, HG01777, HG01392, HG01161, NA19655, HG00373, HG02604, HG01182, HG01921, HG01842, HG03854, NA19225, NA06985, HG01403, HG00141, NA21142, HG01700, NA20296, NA18978, HG00476, HG02282, NA20801, NA19834, NA12775, HG00742, HG01362, HG03689, NA20351, HG03012, HG01260, HG01108, HG00256, NA21094, HG04003, NA19818, HG04015, NA20868, HG02238, NA12749, HG01783, HG01085, HG00174, HG02410, NA20807, HG00343, HG00372, NA07056, HG01097, HG01747, NA12383, NA20882, NA20761, HG02658, NA12717, HG01173, HG04096, NA12842, HG00143, HG01624, HG01610, HG00242, NA19204, NA10851, HG00358, NA20514, HG02727, HG00181, NA20332, HG00115, HG01947, HG02384, NA20771, HG03999, NA12399, HG04156, HG01522, NA18988, HG00271, NA18563, HG03808, HG01277, NA19307, HG02383, HG01168, HG04042, HG04182, HG01761, NA20822, HG02054, HG01372, HG01080, NA20278, NA12156, HG00325, HG00113, HG00705, HG01525, HG03814, NA20889, HG02260, HG01133, HG02780, HG00365, HG01256, HG01124, NA18645, HG00349, NA18747, HG00380, HG00282, HG03714, NA19670, HG01670, HG02345, HG00360, NA21119, HG01789, NA20885, HG00368, HG01979, HG02775, HG00275, HG01077, HG01149, HG01675, HG01607, NA20525, HG00284, NA20867, NA20866, NA20581, HG03631, NA20856, HG02259, HG01101, HG03969, HG01474, NA18963, HG00246, NA12546, HG01075, HG03238, NA20872, HG00155, HG00265, HG01131, HG02790, HG03695, HG01685, HG02304, NA20792, HG00237, NA20902, NA19679, HG03870, NA20544, HG02694, NA20847, HG03977, HG01302, NA20852, NA20510, NA18636, HG00310, HG03925, NA19900, HG02774, HG00105, NA11892, HG01111, NA19312, HG01125, NA12890, NA12154, HG04153, HG03955, HG00255, NA18620, HG01516, HG04198, HG00403, HG00881, HG03773, NA11830, HG02610, NA21097, HG01098, NA20543, NA11829, HG00361, HG01773, HG00351, NA19914, HG03767, NA20531, NA21092, HG00640, HG00367, NA19795, HG00103, HG01686, HG01531, HG00364, HG01944, HG03518, HG03792, HG03139, NA18870, HG03944, HG03836, NA07357, NA20846, HG00622, NA19374, HG01571, NA19792, NA20796, HG01953, HG01682, HG03705, NA20850, NA19448, HG01488, NA11992, HG00346, NA19771, HG00369, NA21103, HG01510, HG01982, HG03803, HG03826, HG01067, HG02512, NA20819, NA06984, HG01628, HG01495, HG03788, HG00309, HG01259, NA18864, HG03267, NA18640, NA19200, HG00264, HG00260, NA18614, NA11831, HG00133, HG02737, HG00290, HG02439, HG01248, HG01841, HG03007, HG01595, HG00328, HG00190, HG01162, HG04107, HG01515, HG01088, NA20895, HG00320, HG01989, HG00598, NA20506, HG04019, HG02102, HG03919, HG02221, HG01447, HG01390, HG01615, HG03871, HG01512, HG03136, NA12249, HG02649, NA19113, HG02884, HG03974, HG00117, NA12827, HG02292, HG00276, HG01890, NA18634, HG01530, NA20765, NA18546, NA20821, NA21087, NA20773, HG03790, HG01190, HG02223, NA19735, HG00366, NA19773, NA20785, NA12046, HG01977, NA19741, NA20797, NA12874, HG04090, HG00111, HG01770, NA18971, HG02974, HG03789, HG03863, HG01254, HG01055, HG01089, HG00186, HG02239, HG00234, NA20528, HG01251, HG01775, HG01378, HG03856, HG01082, HG01566, NA07000, HG01112, HG03129, HG00180, HG01578, HG03686, HG01695, HG00978
Known GenesADAMTS14
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623768
Frequency
Sample Size2504
Observed Gain0
Observed Loss538
Observed Complex0
Frequencyn/a


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