A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3621345



Internal ID6661524
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:104833907..104834826hg38UCSC Ensembl
Innerchr9:104833907..104834826hg38UCSC Ensembl
Outerchr9:104833907..104834826hg38UCSC Ensembl
chr9:107596188..107597107hg19UCSC Ensembl
Innerchr9:107596188..107597107hg19UCSC Ensembl
Outerchr9:107596188..107597107hg19UCSC Ensembl
Cytoband9q31.1
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13592049, essv13592017, essv13592057, essv13592080, essv13592337, essv13592076, essv13592272, essv13591935, essv13592060, essv13592303, essv13592264, essv13592215, essv13592299, essv13592226, essv13592028, essv13592295, essv13592218, essv13592355, essv13592404, essv13592252, essv13592091, essv13592148, essv13592139, essv13592234, essv13591931, essv13592011, essv13592311, essv13592188, essv13592256, essv13592208, essv13592365, essv13592185, essv13592316, essv13592414, essv13592138, essv13592147, essv13591975, essv13592261, essv13592103, essv13592133, essv13592263, essv13592322, essv13592307, essv13592102, essv13592285, essv13592248, essv13592246, essv13592250, essv13592123, essv13592031, essv13592020, essv13592189, essv13592302, essv13592073, essv13592195, essv13592058, essv13592077, essv13591930, essv13592343, essv13592202, essv13591974, essv13592092, essv13592144, essv13591972, essv13592244, essv13592235, essv13592388, essv13591939, essv13592152, essv13592213, essv13592324, essv13592328, essv13592010, essv13592172, essv13592190, essv13592275, essv13592296, essv13592342, essv13592111, essv13592125, essv13592154, essv13592161, essv13591981, essv13592191, essv13591934, essv13592203, essv13592243, essv13592257, essv13592361, essv13592270, essv13591952, essv13591955, essv13592035, essv13592105, essv13592181, essv13592088, essv13592179, essv13592344, essv13592036, essv13592192, essv13592430, essv13592312, essv13592015, essv13592121, essv13592119, essv13592198, essv13591932, essv13592410, essv13592101, essv13592245, essv13592047, essv13592363, essv13592062, essv13592117, essv13592029, essv13592066, essv13592382, essv13592380, essv13592310, essv13591997, essv13592223, essv13591983, essv13591946, essv13591949, essv13592338, essv13592050, essv13592269, essv13592041, essv13592366, essv13592425, essv13592298, essv13592040, essv13592304, essv13592110, essv13592334, essv13592052, essv13592086, essv13592300, essv13592170, essv13592262, essv13592242, essv13592159, essv13591942, essv13591940, essv13592292, essv13592306, essv13592196, essv13592276, essv13592112, essv13592210, essv13591970, essv13592255, essv13592393, essv13591998, essv13592095, essv13592127, essv13592090, essv13592287, essv13592341, essv13592339, essv13591994, essv13592294, essv13592132, essv13591950, essv13592107, essv13592145, essv13592327, essv13592265, essv13591961, essv13592253, essv13591957, essv13592162, essv13592186, essv13592290, essv13591976, essv13592038, essv13592408, essv13592233, essv13592222, essv13592402, essv13592399, essv13592323, essv13592332, essv13591929, essv13592360, essv13592087, essv13592081, essv13592067, essv13592351, essv13592094, essv13592096, essv13592183, essv13592232, essv13591992, essv13592097, essv13592336, essv13592385, essv13592045, essv13592330, essv13592053, essv13592230, essv13591927, essv13592000, essv13592142, essv13592212, essv13591988, essv13592043, essv13592158, essv13592274, essv13592340, essv13592333, essv13592229, essv13592345, essv13592216, essv13592391, essv13592122, essv13592019, essv13591964, essv13592284, essv13591951, essv13592149, essv13592099, essv13592007, essv13592030, essv13592106, essv13592160, essv13591979, essv13592329, essv13592349, essv13591921, essv13592426, essv13592055, essv13592175, essv13592358, essv13592124, essv13592282, essv13591989, essv13592116, essv13592401, essv13592084, essv13592176, essv13592415, essv13591933, essv13592006, essv13592118, essv13592259, essv13592199, essv13592309, essv13592350, essv13592369, essv13591962, essv13592070, essv13592197, essv13592424, essv13592347, essv13592386, essv13592331, essv13592180, essv13592384, essv13592288, essv13592348, essv13592072, essv13592205, essv13592071, essv13592120, essv13592220, essv13592093, essv13592165, essv13592271, essv13591922, essv13592134, essv13592217, essv13592400, essv13591971, essv13592042, essv13592150, essv13592200, essv13592155, essv13592005, essv13592209, essv13592187, essv13591938, essv13592046, essv13592126, essv13592357, essv13592023, essv13592163, essv13592305, essv13592177, essv13591968, essv13592321, essv13592141, essv13591977, essv13592427, essv13592135, essv13591960, essv13591991, essv13592026, essv13592325, essv13592137, essv13592291, essv13592374, essv13592422, essv13591986, essv13592174, essv13592003, essv13591920, essv13592098, essv13592240, essv13591973, essv13591953, essv13592376, essv13592378, essv13591937, essv13592289, essv13592219, essv13592044, essv13592395, essv13592182, essv13592167, essv13592228, essv13592377, essv13591947, essv13591980, essv13592277, essv13592405, essv13591936, essv13592267, essv13592056, essv13592258, essv13592396, essv13592157, essv13592140, essv13592054, essv13591963, essv13591984, essv13592266, essv13592033, essv13592227, essv13592268, essv13592009, essv13592371, essv13592193, essv13592420, essv13592237, essv13592317, essv13591966, essv13592082, essv13592214, essv13592326, essv13592034, essv13592113, essv13592206, essv13592353, essv13591944, essv13591967, essv13591987, essv13592014, essv13592383, essv13592068, essv13592421, essv13592027, essv13592048, essv13592279, essv13592016, essv13592390, essv13592109, essv13592297, essv13592146, essv13592280, essv13592335, essv13592367, essv13592260, essv13592370, essv13591969, essv13591990, essv13592063, essv13592409, essv13592231, essv13592089, essv13592431, essv13591924, essv13592022, essv13592375, essv13592247, essv13592013, essv13592130, essv13592319, essv13592352, essv13592392, essv13592078, essv13592225, essv13591985, essv13592115, essv13591958, essv13592211, essv13592166, essv13592194, essv13592283, essv13592018, essv13592356, essv13592418, essv13592069, essv13592151, essv13592032, essv13592423, essv13592114, essv13592346, essv13592039, essv13592104, essv13592136, essv13592173, essv13591978, essv13592254, essv13592100, essv13592201, essv13592354, essv13592143, essv13592387, essv13591954, essv13592251, essv13592372, essv13592411, essv13591945, essv13592273, essv13592394, essv13592008, essv13592308, essv13592278, essv13592051, essv13592224, essv13592024, essv13591995, essv13592239, essv13592362, essv13592079, essv13592075, essv13592314, essv13591948, essv13592131, essv13592037, essv13592241, essv13592286, essv13592207, essv13592407, essv13592025, essv13592364, essv13591982, essv13592281, essv13592320, essv13591941, essv13591926, essv13592389, essv13592249, essv13592318, essv13592397, essv13592061, essv13592236, essv13592021, essv13592178, essv13591943, essv13592128, essv13592001, essv13592417, essv13592379, essv13592429, essv13592169, essv13591925, essv13591923, essv13591999, essv13592074, essv13591996, essv13592171, essv13592398, essv13592368, essv13591928, essv13592238, essv13592412, essv13591956, essv13592168, essv13592373, essv13592413, essv13592313, essv13592359, essv13591965, essv13592085, essv13592164, essv13592204, essv13592221, essv13592184, essv13592428, essv13592381, essv13592156, essv13591959, essv13592419, essv13592065, essv13592416, essv13592293, essv13592301, essv13592083, essv13592108, essv13592153, essv13592129, essv13592002, essv13591993, essv13592012, essv13592403, essv13592004, essv13592064, essv13592406, essv13592059, essv13592315
SamplesNA18642, HG01610, HG01878, HG02122, NA19012, HG03697, NA18621, HG00309, NA20876, HG01926, NA18605, HG01440, HG03900, HG02166, NA19712, HG03760, NA18616, HG03861, HG02371, NA20527, NA19089, HG01811, HG03729, NA18534, NA18530, NA18535, NA18630, NA18871, HG00956, NA19081, NA19819, NA21110, HG03631, HG01941, HG02164, HG00705, NA18966, HG00437, HG00500, NA20851, HG00464, HG00565, HG01970, HG00632, HG01800, NA11918, NA20346, HG04096, NA19223, HG01927, NA18603, HG01197, HG00657, HG01403, HG01051, HG00189, HG02153, NA20902, HG04060, HG02104, NA19795, HG00428, HG00475, HG02946, NA18947, HG00542, HG03616, HG02010, NA18865, HG01200, NA20894, HG01605, NA18541, HG01167, HG02471, NA20539, HG00683, HG00698, HG02660, NA18963, HG00404, HG02817, NA19651, HG03967, HG01861, HG03833, HG03380, NA19236, HG03796, HG03949, HG00253, HG01860, HG01936, HG03812, NA18745, NA20755, NA20853, HG01968, NA18625, HG02133, NA18628, HG03803, HG00592, HG02870, HG03652, NA12414, NA19077, HG01917, HG02082, NA20412, NA19463, HG02390, HG03461, HG00346, HG04075, NA18627, HG03451, NA11840, NA19076, HG01375, HG02394, HG00406, NA18635, HG04164, NA18622, HG00759, NA18617, HG01572, HG01866, NA18990, HG00692, HG03636, HG03926, NA18592, NA19096, HG00149, HG00533, HG02078, NA19075, HG01867, HG00634, NA21094, NA19700, HG00343, NA19082, NA21102, HG00662, HG02076, HG03895, NA19000, HG02392, HG03869, HG00844, HG00267, HG03169, HG01810, HG01097, HG01600, NA19129, NA18633, HG03792, NA21128, HG00732, NA18939, NA19716, NA18968, NA18986, NA21107, NA19005, NA19002, HG00099, HG00672, HG02069, HG03096, HG02087, HG02386, NA19001, HG03072, HG03645, NA21100, HG02364, HG00599, HG02084, HG02299, HG01921, NA19777, HG00120, HG01565, NA18987, HG00445, HG01137, NA18597, HG02819, NA19391, NA19723, HG00717, HG03009, HG01345, HG02154, HG02238, NA18740, NA21109, HG01799, NA18631, NA20289, HG02628, HG03872, NA19747, NA18544, HG03815, NA19818, HG00608, NA18614, NA18879, NA21086, HG01945, NA19740, HG00123, HG02408, HG00238, NA20886, NA19732, NA19756, HG00275, HG04015, HG00473, HG00598, HG02315, HG00626, NA18615, HG00622, HG00671, NA19087, HG00704, HG01869, HG02064, HG03907, NA18881, HG02396, HG01474, HG01980, HG02367, HG00531, HG02512, NA18629, NA18962, HG03625, HG03370, HG02890, HG01513, NA18647, HG00881, HG00734, HG04146, HG00536, HG00607, NA20890, HG02138, NA18528, HG03280, HG00743, NA20785, NA20868, HG04156, NA18561, NA20506, HG01046, HG02023, HG02546, HG01342, HG01064, HG00675, HG02600, HG00879, HG00736, HG03634, HG01849, NA19060, HG01794, HG02513, NA18570, NA19003, HG00707, NA06989, NA18639, NA12340, NA20802, HG03643, NA18948, NA19670, HG02943, NA18648, HG03969, HG02952, NA18591, HG01492, NA20342, HG02652, NA18608, HG01049, NA18542, HG00446, HG02379, NA21098, HG02020, HG02146, HG01954, NA20900, HG02389, HG03585, HG01029, HG02156, HG03019, NA19648, HG00651, HG00557, HG03229, HG00366, HG01961, HG03928, HG01848, HG01871, HG02433, HG02976, HG01841, HG01950, NA19308, NA19467, HG01551, NA18626, NA19654, HG01521, HG00256, NA18632, HG04038, HG02003, HG00543, NA18559, HG04219, HG01982, HG04098, NA20854, HG01086, HG02155, HG02360, NA18624, HG00250, NA19054, NA18992, NA19323, HG00583, NA12383, NA18566, HG02121, HG01938, NA18563, HG02142, HG01595, NA19722, NA19792, NA18991, HG03862, HG03727, NA18638, HG00631, NA20541, HG02851, HG03871, HG01997, NA18976, HG02028, NA18973, NA19773, NA19056, NA19679, HG03595, NA18643, HG01599, HG00584, HG04185, NA18970, HG00867, HG02224, HG00436, HG02603, HG01874, HG03225, HG00620, HG02304, HG02325, NA18645, HG02127, NA18525, NA18954, NA20512, HG00382, NA19206, NA18498, NA20826, HG01914, HG02278, NA06986, NA18522, NA20334, HG04173, NA20822, HG01853, NA18941, HG01967, HG03619, HG03974, NA19704, HG01676, HG01699, HG02787, NA20818, NA18564, NA18942, HG02147, HG00513, HG03069, NA18997, HG02384, HG01447, NA19074, HG03738, NA19091, HG00729, HG02395, HG01598, HG03767, NA18945, NA20891, HG02582, NA18606, HG00410, NA18543, NA18582, NA18999, NA20581, HG00595, HG02301, NA18552, NA18983, HG00443, HG02067, NA18567, HG01971, HG01973, NA19078, HG00611, HG01626, HG03629, NA12749, HG02182, HG00650, NA06984, HG01953, HG02351, HG03866, NA19764, HG03694, HG00663, HG02075, HG03989, NA19741, HG00362, HG03702, NA18560, HG00409, NA18602, HG02186, NA18577, HG02079, HG03905, NA19649, NA18946, NA19064, HG01464, HG00281, NA21117, NA19717, NA20812, HG00656, HG02678, NA19655, HG01058, HG00422, NA19916, HG01855, HG01251, HG02353, HG00693, NA18611, HG03016, NA20768, HG01791, HG02399, NA20528, HG02136, HG04054, NA18532, NA18549, NA20524, HG02391, HG01110, HG00476, HG02493, NA19750, HG01976, HG03824, HG03950
Known GenesABCA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3621345
Frequency
Sample Size2504
Observed Gain0
Observed Loss512
Observed Complex0
Frequencyn/a


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