A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618562



Internal ID7005444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:117861555..117863350hg38UCSC Ensembl
Innerchr8:117861555..117863350hg38UCSC Ensembl
Outerchr8:117861216..117863634hg38UCSC Ensembl
chr8:118873794..118875589hg19UCSC Ensembl
Innerchr8:118873794..118875589hg19UCSC Ensembl
Outerchr8:118873455..118875873hg19UCSC Ensembl
Cytoband8q24.11
Allele length
AssemblyAllele length
hg381796
hg191796
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13301242, essv13301338, essv13301058, essv13300976, essv13301385, essv13301139, essv13301026, essv13301220, essv13301261, essv13301208, essv13301099, essv13301009, essv13301230, essv13301322, essv13301153, essv13301288, essv13301204, essv13301089, essv13301281, essv13301064, essv13301277, essv13301162, essv13301231, essv13301136, essv13301190, essv13301184, essv13301070, essv13301172, essv13301284, essv13301303, essv13301336, essv13301035, essv13301038, essv13301272, essv13301211, essv13301036, essv13301151, essv13301398, essv13301140, essv13301039, essv13300987, essv13301395, essv13301042, essv13301373, essv13301252, essv13301200, essv13301328, essv13301033, essv13301374, essv13301147, essv13300984, essv13301296, essv13301124, essv13301342, essv13301201, essv13301157, essv13301156, essv13301112, essv13301309, essv13301323, essv13301352, essv13301127, essv13301333, essv13301257, essv13301195, essv13301302, essv13301248, essv13301120, essv13301232, essv13300974, essv13301008, essv13301332, essv13301183, essv13301319, essv13301022, essv13301005, essv13301263, essv13301207, essv13301203, essv13301313, essv13300969, essv13301269, essv13301379, essv13301185, essv13301076, essv13301122, essv13301055, essv13301262, essv13301129, essv13301266, essv13300975, essv13301393, essv13301241, essv13301158, essv13301193, essv13301247, essv13300998, essv13301251, essv13301006, essv13301375, essv13301017, essv13301217, essv13301131, essv13301244, essv13301010, essv13301202, essv13301299, essv13301236, essv13301321, essv13301030, essv13301186, essv13301106, essv13301000, essv13301119, essv13300977, essv13301345, essv13301166, essv13300973, essv13301043, essv13301297, essv13301192, essv13301114, essv13301023, essv13301149, essv13301260, essv13301365, essv13301311, essv13301074, essv13301194, essv13301229, essv13301325, essv13301040, essv13301169, essv13301141, essv13301132, essv13301121, essv13301383, essv13301083, essv13301210, essv13301137, essv13301049, essv13301224, essv13301118, essv13301016, essv13301399, essv13301356, essv13301270, essv13301258, essv13301226, essv13301234, essv13301343, essv13301189, essv13301109, essv13300982, essv13301092, essv13301045, essv13301223, essv13301215, essv13301031, essv13301024, essv13301389, essv13301067, essv13301117, essv13301091, essv13301335, essv13301015, essv13301317, essv13301301, essv13301279, essv13301081, essv13301339, essv13300991, essv13301103, essv13301394, essv13301327, essv13301144, essv13301075, essv13301065, essv13301013, essv13301096, essv13301212, essv13301388, essv13301165, essv13301068, essv13301306, essv13301276, essv13301069, essv13301377, essv13301240, essv13301073, essv13301282, essv13301087, essv13301369, essv13301353, essv13301246, essv13301116, essv13301295, essv13301265, essv13301097, essv13301041, essv13301110, essv13301059, essv13301108, essv13301019, essv13301359, essv13301274, essv13301037, essv13301218, essv13301159, essv13301292, essv13301086, essv13301191, essv13301100, essv13300972, essv13301197, essv13301180, essv13301381, essv13301259, essv13301349, essv13301161, essv13301351, essv13301391, essv13301308, essv13301029, essv13301283, essv13301176, essv13301078, essv13301255, essv13301164, essv13301316, essv13301318, essv13301312, essv13300994, essv13300981, essv13301362, essv13301219, essv13300968, essv13301077, essv13301397, essv13301173, essv13301250, essv13301113, essv13300989, essv13301221, essv13301093, essv13301063, essv13301364, essv13301245, essv13301298, essv13301171, essv13301128, essv13301066, essv13300971, essv13301380, essv13301293, essv13301387, essv13301025, essv13301028, essv13301003, essv13301324, essv13301048, essv13301060, essv13301370, essv13301287, essv13301354, essv13301350, essv13301386, essv13301061, essv13301205, essv13300997, essv13301135, essv13301363, essv13301238, essv13301047, essv13301018, essv13301134, essv13301177, essv13301032, essv13301004, essv13301357, essv13301340, essv13301020, essv13301051, essv13300978, essv13301294, essv13301071, essv13301256, essv13301174, essv13301101, essv13301115, essv13301080, essv13301337, essv13301090, essv13301253, essv13301368, essv13301222, essv13301175, essv13301007, essv13301330, essv13301307, essv13301085, essv13301044, essv13301054, essv13301027, essv13301170, essv13301014, essv13300996, essv13301167, essv13301152, essv13301216, essv13301145, essv13301300, essv13301198, essv13301011, essv13301125, essv13301123, essv13300993, essv13301233, essv13301130, essv13301034, essv13301344, essv13301290, essv13301271, essv13301214, essv13301315, essv13301168, essv13300986, essv13300980, essv13301264, essv13301179, essv13300970, essv13301341, essv13301126, essv13301382, essv13300990, essv13301358, essv13301305, essv13301154, essv13301082, essv13301094, essv13300995, essv13301239, essv13301146, essv13301148, essv13301142, essv13301285, essv13301310, essv13300988, essv13301376, essv13301138, essv13301384, essv13301163, essv13301072, essv13301286, essv13301104, essv13301182, essv13301372, essv13300985, essv13301062, essv13301267, essv13301278, essv13301088, essv13301133, essv13301314, essv13301095, essv13301052, essv13301046, essv13301181, essv13301249, essv13300992, essv13301196, essv13301334, essv13301150, essv13301400, essv13301053, essv13301390, essv13301111, essv13301021, essv13301396, essv13301213, essv13301348, essv13301209, essv13301206, essv13301304, essv13301143, essv13301329, essv13301057, essv13301012, essv13301001, essv13301280, essv13301155, essv13301084, essv13301188, essv13301243, essv13300983, essv13301291, essv13301105, essv13300999, essv13301331, essv13301326, essv13301378, essv13301178, essv13301102, essv13301079, essv13301273, essv13301050, essv13301228, essv13300979, essv13301235, essv13301098, essv13301268, essv13301187, essv13301366, essv13301056, essv13301160, essv13301254, essv13301371, essv13301360, essv13301199, essv13301392, essv13301361, essv13301367, essv13301320, essv13301289, essv13301107, essv13301225, essv13301355, essv13301275, essv13301002, essv13301347, essv13301237, essv13301346, essv13301227
SamplesNA12383, NA12717, HG00304, HG03228, NA20508, HG00242, NA21127, NA12273, HG00358, NA20514, HG04158, HG03753, HG02784, HG01602, NA21100, NA12843, NA11920, NA11931, HG02727, HG00315, HG03616, HG03926, HG03229, NA19684, HG00449, HG00261, NA20359, NA12399, HG03009, HG01513, HG00337, HG00271, HG04059, HG00138, HG01350, HG00356, NA21135, HG00272, HG03016, NA20798, NA19764, NA19678, HG01676, NA21130, NA20756, NA20911, HG01492, NA18618, NA07048, HG02299, HG01761, NA20822, NA20768, NA12762, HG03978, HG02733, HG00334, HG00537, HG00311, HG00139, NA20539, HG03887, NA12275, HG03817, HG01069, NA19720, HG03910, HG01080, HG00867, NA20278, HG00335, NA21109, NA20775, HG02736, NA11932, NA11994, HG01849, HG01284, HG01950, NA20412, HG02260, HG01771, HG01709, HG03649, HG00323, HG00253, NA21105, NA20515, HG00365, NA20755, HG04075, NA20318, HG01256, HG00349, HG00137, HG00154, NA20535, NA12760, HG00731, HG00266, HG03685, HG01435, HG00282, HG01200, HG01122, NA19670, HG02070, HG01670, HG02345, HG00245, HG04039, HG00360, NA12878, HG03990, HG01789, NA20885, HG01684, HG01095, HG00101, NA20810, NA20760, NA19043, HG02731, HG02144, NA20862, HG03775, HG00275, HG02728, NA20875, NA20519, HG00551, HG00239, NA20876, HG04235, HG03967, NA19654, HG01102, HG00324, NA20867, HG03730, NA20903, HG00350, NA11893, HG03713, NA11840, HG01613, HG03631, HG02259, NA06989, HG00140, NA19752, HG00099, HG02219, HG01697, HG00246, HG00126, HG01956, HG01625, HG03694, NA20799, NA19652, NA21117, HG04216, HG02667, HG00254, HG04227, HG00336, HG00353, HG02220, NA20815, HG03692, HG01272, NA12873, HG01396, NA20520, HG01357, NA21123, NA20530, NA19679, HG01137, HG00116, NA12763, NA12347, HG03973, HG00339, HG01086, NA06994, HG01765, HG01577, HG02373, HG02367, HG01935, HG03977, NA21093, HG00310, NA20786, HG01631, NA18876, HG02348, HG01914, HG01479, NA20503, HG00171, NA12890, NA12006, NA20827, HG03867, HG01786, NA20754, NA21120, HG00255, NA19676, HG03989, HG04198, NA20762, HG04212, HG00114, HG03857, HG01098, HG01054, NA20543, NA20877, HG01438, HG01961, HG00361, HG03960, NA12814, HG02298, HG01359, HG01348, HG03237, HG01052, HG00187, HG01537, HG02648, HG02262, HG01374, HG00306, NA20532, NA12045, HG00640, HG00367, HG04094, HG00103, HG02277, NA12004, HG04018, NA12058, NA20808, HG00150, HG01632, NA12400, NA07357, HG01140, NA12413, NA12341, HG00127, HG02312, NA12812, HG00251, HG03706, HG04022, NA20850, NA19762, NA20586, HG00173, HG03937, HG03905, HG00736, HG03885, HG00851, HG00346, HG02786, HG00277, NA12005, HG01067, HG00683, HG00379, HG03968, HG02003, NA06984, HG01628, HG00236, NA20896, HG01072, HG01527, HG01281, HG01767, HG01308, HG03777, HG01673, HG01405, NA12889, NA12815, HG02420, NA20869, HG00309, HG01259, HG02502, HG02104, HG00338, HG00159, NA20764, HG00178, NA20533, HG03862, NA21106, HG01784, HG00290, HG00188, NA20854, NA18544, HG03844, HG01248, NA19657, HG01360, HG00183, HG00176, HG01187, NA20858, HG02233, HG04225, NA20524, HG01247, NA20505, HG01790, NA20809, HG00653, HG04107, NA20536, HG01938, HG01612, HG00584, NA19788, HG01119, NA21118, NA19658, HG02102, NA20767, NA18976, NA19776, HG01092, HG01447, HG01615, HG01392, HG00273, HG01619, NA19655, HG02604, HG02008, HG01504, HG01182, HG03625, HG01921, HG00157, NA12827, HG01705, NA19338, HG02725, HG00276, HG01708, HG01403, HG00141, HG01865, HG03991, NA20534, HG01204, NA18646, HG01700, HG01530, HG01992, NA21143, NA20821, HG00119, HG01190, HG00366, HG01894, HG00375, HG01362, NA19037, HG00308, HG00631, HG01205, HG02685, HG00319, NA19741, NA20803, HG00256, NA21094, HG01991, HG00269, NA20887, NA21125, HG01801, HG01395, HG01606, HG00111, HG01432, HG04015, HG03789, HG01917, HG03896, HG03646, HG02230, NA19060, HG00329, NA12749, HG01254, HG00174, HG00123, HG01089, HG03998, HG03916, HG02239, NA20528, HG01251, HG00252, NA19661, HG01377, HG01775, HG01082, NA19758, HG04056, HG02425, HG01566, HG02284, NA21104, HG03931, HG00180, HG01061, NA20509, NA20511, HG01608
Known GenesEXT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618562
Frequency
Sample Size2504
Observed Gain0
Observed Loss433
Observed Complex0
Frequencyn/a


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