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 Variantsessv13592192, essv13592375, essv13591959, essv13591934, essv13592136, essv13592044, essv13591989, essv13592253, essv13592231, essv13591979, essv13592342, essv13592308, essv13592282, essv13592058, essv13591992, essv13592369, essv13592341, essv13592365, essv13592306, essv13592152, essv13592150, essv13592122, essv13592370, essv13592063, essv13591990, essv13592229, essv13591920, essv13591961, essv13592372, essv13592082, essv13592110, essv13592401, essv13592148, essv13592051, essv13592062, essv13592303, essv13592271, essv13592164, essv13592354, essv13592350, essv13592003, essv13592057, essv13592426, essv13592293, essv13592144, essv13592317, essv13592318, essv13592200, essv13592018, essv13591983, essv13592418, essv13592008, essv13592335, essv13592168, essv13591999, essv13591982, essv13592314, essv13591921, essv13591943, essv13592193, essv13591952, essv13592153, essv13592288, essv13592158, essv13592026, essv13592125, essv13592249, essv13592035, essv13591984, essv13592160, essv13592304, essv13592349, essv13591962, essv13592393, essv13592201, essv13592431, essv13592334, essv13592415, essv13592182, essv13592289, essv13592258, essv13592123, essv13592236, essv13592353, essv13592237, essv13592207, essv13592390, essv13592429, essv13591936, essv13592104, essv13592185, essv13592055, essv13592394, essv13592307, essv13592094, essv13592367, essv13592381, essv13592085, essv13592081, essv13592086, essv13592344, essv13592071, essv13592312, essv13592197, essv13592031, essv13592061, essv13592173, essv13591935, essv13591950, essv13592109, essv13592417, essv13592089, essv13592042, essv13592048, essv13592383, essv13592246, essv13591995, essv13591968, essv13592113, essv13592043, essv13592346, essv13592277, essv13591980, essv13591974, essv13592331, essv13591951, essv13592397, essv13592198, essv13592069, essv13592217, essv13592162, essv13592238, essv13592140, essv13592425, essv13592324, essv13592098, essv13592248, essv13591930, essv13592343, essv13592326, essv13592149, essv13592266, essv13591929, essv13592355, essv13592295, essv13592239, essv13592067, essv13592166, essv13591958, essv13592108, essv13592111, essv13592214, essv13592105, essv13591973, essv13591953, essv13592348, essv13592315, essv13592382, essv13592284, essv13592255, essv13592297, essv13591955, essv13592422, essv13592130, essv13592224, essv13591937, essv13591986, essv13592290, essv13592416, essv13592101, essv13592364, essv13592330, essv13592300, essv13591985, essv13592206, essv13592119, essv13592296, essv13592131, essv13592388, essv13592392, essv13592316, essv13592028, essv13592403, essv13592329, essv13592139, essv13592118, essv13592234, essv13592411, essv13592384, essv13592120, essv13592096, essv13592402, essv13592050, essv13592066, essv13592021, essv13591975, essv13592177, essv13592128, essv13592030, essv13591957, essv13592276, essv13592204, essv13592102, essv13591954, essv13592407, essv13592001, essv13592359, essv13592347, essv13592233, essv13592218, essv13591987, essv13592195, essv13592351, essv13592127, essv13592039, essv13591948, essv13592360, essv13592216, essv13592226, essv13592408, essv13592298, essv13592032, essv13592389, essv13592232, essv13591998, essv13592184, essv13592171, essv13592196, essv13592385, essv13592240, essv13592281, essv13592121, essv13592017, essv13592412, essv13592280, essv13592025, essv13592245, essv13592419, essv13592265, essv13592395, essv13591933, essv13592208, essv13592222, essv13592103, essv13592210, essv13592005, essv13592072, essv13592357, essv13592268, essv13592373, essv13591922, essv13591972, essv13592064, essv13592212, essv13591960, essv13592052, essv13592243, essv13592019, essv13592170, essv13592078, essv13592230, essv13592165, essv13591994, essv13592221, essv13592006, essv13592154, essv13592000, essv13592361, essv13592333, essv13592138, essv13592033, essv13592156, essv13592340, essv13592424, essv13592336, essv13591939, essv13592015, essv13592134, essv13592202, essv13592047, essv13591978, essv13591946, essv13591996, essv13592106, essv13592083, essv13592172, essv13592145, essv13592060, essv13592090, essv13592132, essv13592076, essv13592129, essv13592097, essv13592272, essv13592225, essv13591926, essv13592269, essv13592301, essv13591923, essv13592274, essv13592167, essv13592273, essv13592114, essv13592406, essv13591977, essv13591969, essv13591925, essv13592053, essv13592327, essv13592421, essv13592116, essv13592023, essv13592256, essv13592251, essv13592305, essv13592036, essv13592294, essv13592275, essv13592014, essv13592010, essv13592115, essv13592405, essv13592189, essv13592362, essv13592283, essv13592013, essv13592302, essv13591928, essv13591945, essv13592093, essv13592137, essv13592427, essv13592325, essv13592366, essv13592176, essv13592151, essv13592337, essv13592399, essv13592363, essv13592059, essv13592398, essv13592024, essv13592430, essv13591971, essv13591988, essv13592079, essv13592157, essv13592374, essv13592220, essv13592179, essv13592260, essv13592319, essv13592029, essv13592311, essv13592056, essv13591932, essv13592299, essv13592205, essv13592215, essv13591924, essv13592309, essv13592054, essv13592161, essv13592352, essv13592080, essv13592074, essv13592075, essv13592378, essv13591963, essv13592092, essv13592235, essv13592020, essv13592420, essv13592011, essv13592191, essv13592261, essv13592332, essv13591997, essv13592404, essv13592169, essv13591966, essv13592117, essv13592387, essv13592126, essv13592313, essv13592087, essv13591927, essv13592180, essv13592040, essv13591949, essv13592091, essv13592037, essv13592012, essv13592264, essv13591967, essv13592368, essv13592228, essv13591942, essv13592073, essv13591981, essv13592291, essv13592022, essv13591964, essv13592270, essv13591940, essv13592409, essv13592396, essv13592413, essv13592345, essv13592287, essv13592247, essv13591970, essv13592183, essv13592112, essv13592159, essv13592009, essv13592379, essv13592242, essv13592088, essv13591947, essv13592007, essv13592213, essv13592133, essv13592414, essv13592077, essv13592178, essv13592194, essv13592049, essv13592279, essv13592187, essv13592045, essv13592163, essv13592038, essv13592004, essv13591976, essv13592377, essv13592358, essv13592262, essv13592100, essv13592285, essv13592259, essv13592278, essv13592257, essv13592147, essv13592241, essv13592227, essv13592428, essv13592263, essv13592209, essv13592323, essv13592203, essv13592254, essv13592356, essv13592107, essv13592068, essv13591993, essv13592322, essv13591938, essv13592292, essv13592328, essv13592391, essv13592181, essv13592070, essv13592141, essv13592186, essv13592190, essv13592400, essv13592016, essv13592252, essv13591944, essv13592339, essv13592219, essv13592338, essv13592155, essv13592135, essv13592034, essv13592095, essv13592310, essv13592199, essv13592142, essv13592143, essv13592223, essv13591941, essv13592380, essv13592027, essv13592320, essv13592211, essv13592286, essv13592376, essv13592099, essv13591931, essv13592041, essv13592410, essv13592124, essv13592065, essv13591991, essv13592250, essv13591956, essv13592244, essv13592423, essv13592267, essv13592146, essv13591965, essv13592046, essv13592321, essv13592175, essv13592084, essv13592386, essv13592371, essv13592174, essv13592188, essv13592002
SamplesHG00189, HG00650, NA20891, HG00608, NA18621, NA18947, NA18647, NA12414, HG04060, NA21100, NA18999, NA20512, NA18528, HG00729, HG02600, HG03616, NA18530, HG02154, NA21128, NA18633, HG03069, NA20894, HG00717, NA19089, HG03645, HG02069, HG02156, HG01676, HG01167, HG01492, HG02299, NA11918, NA18582, NA20768, HG00281, HG00632, NA20812, HG02389, HG01849, HG02082, HG01973, HG01950, NA20412, HG03380, HG00406, HG03585, HG01967, NA20755, HG01565, HG02943, HG03697, NA18605, HG01867, NA19056, HG01200, HG04146, HG03907, HG02142, HG00657, HG03928, NA19717, HG02084, NA19081, HG03900, NA18948, HG00692, NA20876, NA19064, NA18879, NA21086, HG00404, NA11840, HG04173, HG02121, NA19750, NA18532, NA06989, HG03451, HG01936, HG00099, HG02127, HG03694, HG01811, NA20851, HG00611, HG00382, NA19712, NA18564, HG02546, NA18628, HG03949, HG01874, HG02391, NA18865, HG03702, HG01866, HG03869, HG00662, NA18615, HG01342, HG02133, HG03729, HG01861, HG02379, HG00513, NA18631, HG02367, NA19223, HG02079, HG00267, HG01799, HG04098, HG02182, NA20826, HG01914, HG01794, HG00595, HG02353, NA19129, NA18624, HG02851, HG02351, HG03815, NA19074, NA18577, HG03989, HG00626, HG03812, NA19648, NA19700, HG00592, NA20853, HG03652, HG01961, NA18592, NA18561, NA19704, NA18881, NA18603, HG02360, HG03280, NA19819, NA18625, HG04164, HG02394, NA20346, NA18962, HG03950, NA19076, HG03796, NA20890, HG01064, HG02087, HG02325, NA19723, NA18635, NA20900, NA19916, HG01945, HG01599, HG00634, NA18942, HG00736, NA19649, NA19054, HG03629, NA18498, HG01848, HG01110, NA20541, HG02493, NA19651, HG00120, HG02395, HG02315, HG00683, HG02003, HG02224, NA18560, HG01046, NA19075, NA18617, HG02471, NA19087, NA19002, HG02138, HG02946, HG01605, NA18973, NA18638, HG00675, HG00464, HG03169, HG02819, HG01699, NA20818, HG00543, HG00149, HG02166, HG02136, NA19082, NA20524, NA19077, HG02582, HG00428, HG03760, NA19391, NA18991, HG02076, HG01938, HG00475, HG01810, HG00584, HG00500, NA21098, NA18976, HG02976, NA19000, HG03824, HG00844, NA19655, HG02817, HG01197, NA18946, NA19001, HG03625, HG01921, HG01403, NA19756, HG02408, HG02399, HG00445, NA19308, HG00476, HG03866, HG04219, NA18535, NA18543, HG03461, HG01954, NA18559, HG00565, HG02064, NA19732, HG01800, HG01598, HG00631, HG00607, NA18629, NA18591, HG00256, NA21094, HG03019, NA19818, NA19323, NA19078, HG00707, HG00672, HG00446, HG04015, HG01917, HG00409, NA20868, HG02238, NA18987, NA12749, HG02396, HG00343, NA18552, HG01464, HG00759, HG01097, NA18549, HG00437, HG01976, HG02386, NA18745, NA12383, HG00542, HG04096, HG02628, HG01610, HG00671, HG02122, HG02078, NA20802, NA18639, HG03926, NA12340, HG03229, NA18616, HG02384, HG01051, NA18602, HG04156, HG00693, NA18627, HG03009, HG01513, HG00663, NA18563, HG04038, HG03016, NA18597, NA19764, HG02952, HG00599, HG02146, NA18567, HG01968, HG00238, HG02301, NA20822, HG02603, HG02278, NA20539, HG03619, HG00867, NA21109, HG00705, NA18966, NA19722, NA18990, HG01058, NA20342, HG01626, HG00253, HG04075, HG02164, HG00743, NA18645, HG00443, HG03861, NA19091, NA19670, NA18525, HG02075, HG00557, HG02678, HG00732, HG00583, HG01941, HG00275, HG01345, NA18871, NA18534, HG01029, HG03967, NA19654, HG00651, HG00250, NA18626, HG00531, NA20581, HG02787, HG03631, HG03643, HG03969, HG01474, NA18963, HG00704, NA18570, HG01572, NA18541, NA19012, HG02660, NA19003, NA18632, NA21117, HG01980, HG02010, NA19747, HG01878, HG01551, HG00734, HG02304, NA20527, HG01375, HG00473, NA20902, NA19679, HG01137, HG03727, HG00620, HG02371, HG01086, HG02147, NA21102, NA19716, NA20289, HG01600, HG03872, NA18983, HG02020, NA18968, NA19463, NA18740, HG01927, NA18997, HG00881, HG03096, NA21110, HG02890, HG02652, HG01521, HG00536, HG01860, HG01855, HG02433, HG03767, HG03738, HG01970, NA19795, HG02870, NA19777, HG01971, NA18606, HG03895, HG03792, HG00879, HG02023, HG00622, NA19792, NA19005, HG02153, HG01953, HG01853, HG01997, HG02155, HG03370, HG03905, HG00346, NA18642, HG01982, NA18611, HG03803, NA18970, HG02512, HG02067, NA06984, HG03595, HG00422, NA21107, NA18986, HG01440, HG00309, HG04185, HG03225, HG02104, NA18954, NA18648, HG03862, NA18614, NA20854, NA18544, HG01841, HG01871, HG01595, HG02513, HG03636, NA19236, NA18939, HG00436, HG00533, HG02390, HG00598, NA20506, NA18630, HG01049, HG02364, HG01447, NA18566, HG03871, HG00956, HG04054, HG03974, HG01791, NA19740, HG03634, HG00410, NA18945, NA18608, NA19206, NA18542, HG03833, HG00366, NA18941, NA19773, NA20785, NA18992, NA19467, NA18643, NA19741, NA06986, NA19060, HG00656, NA20334, HG02392, HG00123, HG00698, NA19096, HG02186, NA20528, HG01251, NA20886, HG02028, HG03072, HG01869, NA18522, NA18622, HG00362, HG01926
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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