A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591077



Internal ID6631361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64252508..64257387hg38UCSC Ensembl
Innerchr2:64252508..64257387hg38UCSC Ensembl
Outerchr2:64252164..64257671hg38UCSC Ensembl
chr2:64479642..64484521hg19UCSC Ensembl
Innerchr2:64479642..64484521hg19UCSC Ensembl
Outerchr2:64479298..64484805hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg384880
hg194880
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10525303, essv10525236, essv10524953, essv10525038, essv10524916, essv10525181, essv10525043, essv10525319, essv10525113, essv10525317, essv10524940, essv10524946, essv10525334, essv10525115, essv10524921, essv10524962, essv10524997, essv10525284, essv10525177, essv10525307, essv10525088, essv10524959, essv10525311, essv10525376, essv10524919, essv10525022, essv10525250, essv10524956, essv10525266, essv10525324, essv10524912, essv10525350, essv10525221, essv10525287, essv10525160, essv10525255, essv10525077, essv10525356, essv10525104, essv10525163, essv10524981, essv10525203, essv10525084, essv10525227, essv10525036, essv10525302, essv10524979, essv10525354, essv10525223, essv10525285, essv10525060, essv10525225, essv10525147, essv10525152, essv10525002, essv10524963, essv10525196, essv10525179, essv10525312, essv10525381, essv10525306, essv10525074, essv10525064, essv10525100, essv10525358, essv10525270, essv10525176, essv10525053, essv10525367, essv10525347, essv10525310, essv10525131, essv10525341, essv10525154, essv10524999, essv10525175, essv10524930, essv10525210, essv10525141, essv10525000, essv10525273, essv10525315, essv10525198, essv10525072, essv10525013, essv10525061, essv10525292, essv10525297, essv10525180, essv10525012, essv10524939, essv10525234, essv10524994, essv10525322, essv10525067, essv10524935, essv10525006, essv10525204, essv10525206, essv10525082, essv10525008, essv10524931, essv10525156, essv10525256, essv10525048, essv10524937, essv10525108, essv10525110, essv10525058, essv10524957, essv10525305, essv10525276, essv10525318, essv10525259, essv10525165, essv10525097, essv10525057, essv10525220, essv10524928, essv10524941, essv10525079, essv10525201, essv10525249, essv10525208, essv10525169, essv10525331, essv10525336, essv10524938, essv10525328, essv10525327, essv10525015, essv10525197, essv10525123, essv10525119, essv10525137, essv10524990, essv10525240, essv10525004, essv10525353, essv10525264, essv10525320, essv10525098, essv10525195, essv10525313, essv10525283, essv10525228, essv10525239, essv10525093, essv10525372, essv10525116, essv10524950, essv10525075, essv10524987, essv10524920, essv10525289, essv10525348, essv10525275, essv10525370, essv10525304, essv10525094, essv10525052, essv10525044, essv10525017, essv10525288, essv10525059, essv10524969, essv10525298, essv10525360, essv10525262, essv10525071, essv10525374, essv10525280, essv10525267, essv10524929, essv10525005, essv10525217, essv10525352, essv10525338, essv10525121, essv10525279, essv10524978, essv10525047, essv10525011, essv10525371, essv10525080, essv10525366, essv10524948, essv10524993, essv10525161, essv10525037, essv10525265, essv10524972, essv10525308, essv10525263, essv10525222, essv10524914, essv10525105, essv10524926, essv10525364, essv10525134, essv10524917, essv10525251, essv10525209, essv10525332, essv10525001, essv10524924, essv10525023, essv10525162, essv10524995, essv10524958, essv10525028, essv10525132, essv10525035, essv10525173, essv10525325, essv10525344, essv10525243, essv10525130, essv10525083, essv10524922, essv10525085, essv10525349, essv10525032, essv10525230, essv10524991, essv10525092, essv10524927, essv10525373, essv10525337, essv10525136, essv10525014, essv10525073, essv10525377, essv10525129, essv10524944, essv10525321, essv10525140, essv10525018, essv10525189, essv10524986, essv10524942, essv10525260, essv10524982, essv10525281, essv10525343, essv10525369, essv10525164, essv10525167, essv10524965, essv10525244, essv10525178, essv10525106, essv10525063, essv10525205, essv10525258, essv10524977, essv10525025, essv10525237, essv10525245, essv10525383, essv10525148, essv10524988, essv10525171, essv10525150, essv10525241, essv10525081, essv10525125, essv10525139, essv10525183, essv10525215, essv10525229, essv10525330, essv10525224, essv10525235, essv10525346, essv10524974, essv10525127, essv10524989, essv10525193, essv10525124, essv10524915, essv10525091, essv10524961, essv10525277, essv10525168, essv10525065, essv10525046, essv10525033, essv10525309, essv10525380, essv10524951, essv10525031, essv10525268, essv10525118, essv10525003, essv10524996, essv10525050, essv10525339, essv10525138, essv10525207, essv10525294, essv10525122, essv10525070, essv10525172, essv10525316, essv10525019, essv10525211, essv10525027, essv10524968, essv10525335, essv10525296, essv10525194, essv10525212, essv10525295, essv10525368, essv10525078, essv10525216, essv10525290, essv10525144, essv10525135, essv10525362, essv10525107, essv10525054, essv10525361, essv10525184, essv10524967, essv10524960, essv10525111, essv10525117, essv10525087, essv10525359, essv10525329, essv10525045, essv10525042, essv10524971, essv10525089, essv10525146, essv10525246, essv10525068, essv10524984, essv10525282, essv10525151, essv10525066, essv10524945, essv10525062, essv10525041, essv10525039, essv10525365, essv10525271, essv10525257, essv10525182, essv10525218, essv10525056, essv10524949, essv10525213, essv10525159, essv10525095, essv10525326, essv10525101, essv10525112, essv10525248, essv10525382, essv10525233, essv10525158, essv10524925, essv10525301, essv10525103, essv10525128, essv10525219, essv10525293, essv10525009, essv10525340, essv10525143, essv10525096, essv10524936, essv10525049, essv10525120, essv10525010, essv10525299, essv10524975, essv10525190, essv10525170, essv10525186, essv10524985, essv10524952, essv10524992, essv10525055, essv10525007, essv10524934, essv10525286, essv10525102, essv10525016, essv10525149, essv10525357, essv10525363, essv10525214, essv10525029, essv10525226, essv10524918, essv10525185, essv10525021, essv10524923, essv10525069, essv10525155, essv10525323, essv10524933, essv10525142, essv10524955, essv10525345, essv10525314, essv10525174, essv10524943, essv10525030, essv10524980, essv10525238, essv10525191, essv10524966, essv10524913, essv10525254, essv10524976, essv10525114, essv10525126, essv10525261, essv10525269, essv10524954, essv10525076, essv10525375, essv10524998, essv10524947, essv10524970, essv10525202, essv10525278, essv10525351, essv10525024, essv10525272, essv10525200, essv10525145, essv10524964, essv10525355, essv10525109, essv10525153, essv10525379, essv10525300, essv10525274, essv10525099, essv10525187, essv10525034, essv10525192, essv10525291, essv10525026, essv10525253, essv10524983, essv10525333, essv10525040, essv10525247, essv10525090, essv10525231, essv10524973, essv10525199, essv10525166, essv10525342, essv10525242, essv10525378, essv10525232, essv10524932, essv10525252, essv10525051, essv10525020, essv10525133, essv10525157, essv10525188, essv10525086
SamplesHG02122, NA11881, HG00309, HG01770, HG01926, HG02250, HG03015, NA18595, NA20771, HG03646, HG02275, HG02371, NA19734, HG02272, HG02649, NA20527, HG01284, HG01353, HG02298, NA18530, NA18535, NA18630, HG01519, HG02597, NA19081, NA21110, HG03631, HG01941, NA18966, HG00500, HG01173, HG01083, NA20510, HG00464, NA20531, HG02088, HG02792, HG04096, HG01777, NA18603, HG02139, HG04056, HG01051, NA20902, HG01816, HG00428, NA18947, HG00368, NA19920, NA12005, HG00139, HG01606, NA21135, NA12058, HG00334, HG00355, HG01920, NA18963, HG00404, NA07051, HG04001, HG03951, HG04180, HG00280, HG00335, HG00177, HG03696, HG00113, HG03714, HG03796, HG03916, NA20798, HG00737, HG00699, HG01860, HG03808, NA18745, HG01608, NA12287, HG01171, NA18949, HG03897, HG01917, HG03955, NA21090, HG02775, NA18979, NA19085, HG00346, HG02061, HG04206, NA21111, NA18627, NA20849, HG04188, HG01375, NA21097, NA20764, HG00308, HG01248, NA18536, NA18622, HG00259, HG01756, HG02221, HG00759, HG01583, HG04153, HG00728, HG01866, HG01395, HG03636, NA18636, HG01965, NA18592, HG02385, NA12273, HG00315, HG00338, HG03793, HG01360, HG02143, HG02348, NA11831, NA11894, NA12400, HG01867, NA11995, HG00634, NA18593, HG02380, HG00276, HG00284, HG01187, NA12777, NA21094, HG01247, HG00343, HG03722, NA21102, HG03742, NA19728, HG02076, NA12751, NA19000, HG00306, HG02392, HG02236, NA19725, NA20587, NA12716, NA18747, HG02185, HG04141, HG03922, HG02541, NA12778, HG00383, NA18986, NA20753, NA20852, HG00176, HG01773, HG01170, HG02031, HG00102, NA18961, HG02266, HG01351, HG03800, NA20815, NA19001, HG00101, HG01494, NA19720, HG01260, HG03645, HG04162, HG00525, HG00599, HG02084, HG00674, HG01921, NA19777, NA12890, NA20525, HG00445, HG01137, NA18597, HG01190, HG01809, HG02128, NA18740, HG01632, NA12812, NA20518, HG01799, HG02230, NA12889, HG03925, HG00118, NA19755, NA19818, NA21086, HG00379, HG01945, NA19740, NA11830, NA11992, NA12003, HG01464, NA19749, HG04039, NA18944, NA19063, HG01619, HG00235, HG01886, NA12842, HG01947, HG03607, HG01366, NA19732, NA19006, HG01855, HG01951, HG02271, NA19752, HG02682, HG00367, HG00623, HG02353, NA18611, HG01177, HG03830, HG01498, NA20904, HG00275, HG01892, HG03850, HG00288, NA18532, NA18549, HG00442, HG00473, HG01102, HG03885, HG04006, NA19079, NA20804, NA20806, HG02391, HG00476, NA21091, HG01869, HG01932, HG02064, HG03907, NA19750, HG00278, HG01976, HG03490, NA19779, HG01980, HG00531, NA18629, HG01354, HG01578, HG02179, HG00128, HG02253, HG00361, HG01198, HG01686, NA18962, HG01870, NA12827, HG01868, HG01459, HG00734, HG01359, NA12249, HG04146, NA20874, HG01790, NA21125, HG02138, HG02398, HG03985, HG00743, HG01130, HG01302, HG04003, HG03977, NA20506, HG00127, HG04202, NA18975, HG01046, HG02086, HG02407, HG02655, HG00675, HG00596, HG03874, HG01944, NA20508, HG00449, HG01849, HG00310, HG00384, HG02734, HG00261, HG01054, HG01935, HG01098, HG04014, NA20802, NA20775, HG03611, NA18648, HG02260, NA20511, NA12813, HG03894, NA19010, HG00375, HG00173, HG01524, HG03973, NA18542, HG02105, HG02020, HG00701, HG01680, HG04216, HG01577, HG03765, HG00557, HG01571, HG00366, HG01961, HG01525, HG02789, HG01950, NA12044, HG00188, NA19776, HG00479, NA19654, HG01812, HG00342, HG02003, NA19762, HG00543, NA18559, NA19726, HG01982, HG01086, HG01363, HG01140, HG02137, HG03736, NA18992, NA21137, HG02696, NA19652, HG00583, HG01028, NA18566, HG00337, NA19068, HG01865, NA12155, HG00332, NA18563, NA20757, HG02292, NA18644, HG03899, NA12873, HG01851, HG01047, HG01272, HG01815, HG00330, HG03844, NA18638, NA11933, HG00178, HG00419, NA18547, HG01997, NA12829, HG01113, HG04099, NA19773, NA19681, NA19663, NA20892, HG03971, NA18970, HG00133, HG01497, HG01797, NA19676, HG02304, HG03902, NA20901, HG02131, NA12046, NA19785, NA21143, NA18537, NA18620, HG02019, HG02127, HG00268, NA20826, HG01271, HG02278, HG03754, HG00260, HG01121, HG03782, NA18941, HG00273, HG01967, HG04062, HG01176, NA20818, NA18564, HG01257, HG02147, NA20582, HG03733, NA20821, HG01447, HG01060, NA18985, HG02180, HG02690, HG00589, HG01991, HG02026, HG02345, HG02406, HG02309, HG01566, NA18582, HG00595, HG02301, HG03237, HG00443, HG01393, HG03875, NA18567, HG01973, HG00611, HG03789, NA18995, NA20332, HG03866, HG03694, HG03986, NA18565, HG00138, HG00663, HG00448, HG02262, HG02141, NA20513
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591077
Frequency
Sample Size2504
Observed Gain0
Observed Loss472
Observed Complex0
Frequencyn/a


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