A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3594361



Internal ID6981681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:219367901..219368413hg38UCSC Ensembl
Innerchr2:219367910..219368404hg38UCSC Ensembl
Outerchr2:219367892..219368422hg38UCSC Ensembl
chr2:220232623..220233135hg19UCSC Ensembl
Innerchr2:220232632..220233126hg19UCSC Ensembl
Outerchr2:220232614..220233144hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg38513
hg19513
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10855223, essv10855325, essv10854979, essv10855242, essv10855211, essv10855045, essv10854991, essv10855376, essv10854881, essv10855219, essv10855026, essv10854998, essv10855295, essv10855317, essv10854969, essv10855371, essv10855035, essv10854891, essv10855003, essv10855075, essv10854932, essv10855370, essv10855294, essv10855359, essv10855006, essv10854941, essv10855033, essv10854962, essv10854890, essv10855257, essv10854936, essv10855193, essv10855286, essv10855206, essv10854976, essv10855172, essv10855114, essv10854997, essv10855068, essv10855312, essv10854992, essv10855155, essv10855349, essv10855252, essv10855204, essv10855145, essv10855106, essv10854972, essv10854938, essv10854966, essv10855384, essv10855341, essv10855050, essv10854880, essv10855025, essv10855181, essv10854894, essv10854937, essv10855120, essv10854952, essv10855347, essv10855175, essv10854885, essv10855131, essv10855210, essv10855022, essv10855250, essv10855352, essv10855268, essv10854963, essv10855304, essv10855226, essv10855100, essv10855060, essv10854883, essv10855139, essv10854949, essv10855019, essv10854910, essv10855356, essv10855399, essv10855159, essv10855299, essv10855163, essv10855119, essv10855328, essv10855218, essv10854945, essv10855146, essv10854965, essv10854939, essv10855053, essv10855087, essv10854905, essv10855402, essv10855329, essv10854928, essv10854908, essv10854898, essv10855361, essv10855088, essv10855222, essv10854900, essv10855099, essv10855276, essv10855007, essv10855153, essv10855065, essv10855248, essv10854909, essv10854930, essv10855289, essv10855240, essv10855123, essv10855388, essv10854882, essv10855126, essv10855364, essv10855161, essv10855138, essv10854954, essv10855185, essv10855321, essv10855117, essv10855064, essv10854924, essv10855350, essv10855249, essv10855301, essv10855082, essv10855331, essv10855322, essv10854889, essv10855330, essv10855186, essv10855129, essv10855009, essv10855137, essv10854907, essv10855043, essv10854988, essv10855373, essv10855168, essv10855275, essv10855124, essv10855202, essv10854953, essv10854950, essv10855067, essv10855318, essv10855243, essv10855253, essv10855143, essv10855104, essv10855018, essv10855369, essv10855273, essv10855080, essv10855195, essv10855044, essv10855122, essv10854911, essv10855258, essv10855038, essv10854959, essv10855232, essv10855392, essv10855340, essv10855118, essv10855057, essv10855008, essv10855284, essv10855343, essv10854913, essv10855205, essv10855308, essv10855274, essv10855395, essv10855142, essv10855281, essv10855144, essv10855344, essv10855062, essv10854975, essv10855348, essv10855188, essv10855094, essv10855259, essv10855150, essv10855406, essv10855229, essv10855128, essv10855196, essv10854942, essv10855014, essv10855366, essv10855200, essv10855102, essv10855398, essv10854918, essv10855400, essv10855279, essv10855077, essv10855389, essv10854946, essv10855342, essv10855020, essv10855031, essv10854970, essv10854917, essv10855306, essv10855391, essv10855093, essv10855396, essv10855333, essv10855220, essv10855016, essv10855254, essv10855382, essv10855156, essv10855285, essv10855097, essv10854915, essv10855377, essv10855311, essv10855302, essv10855244, essv10855209, essv10854914, essv10855305, essv10855055, essv10855290, essv10855235, essv10855115, essv10855337, essv10855182, essv10854947, essv10854978, essv10855379, essv10855140, essv10855015, essv10855071, essv10855263, essv10855173, essv10855404, essv10855121, essv10855091, essv10855197, essv10855037, essv10855194, essv10855171, essv10855297, essv10855167, essv10855271, essv10855277, essv10854922, essv10855401, essv10854989, essv10855081, essv10854999, essv10855089, essv10855070, essv10855017, essv10855292, essv10855105, essv10854895, essv10855296, essv10855108, essv10854964, essv10855265, essv10854884, essv10855180, essv10854982, essv10855367, essv10854877, essv10854960, essv10855316, essv10854878, essv10855203, essv10855164, essv10855178, essv10855074, essv10855241, essv10855110, essv10854935, essv10855345, essv10855315, essv10854986, essv10855387, essv10855298, essv10855360, essv10854902, essv10855002, essv10855001, essv10854967, essv10855332, essv10855309, essv10855095, essv10855278, essv10854955, essv10855251, essv10855365, essv10855111, essv10854994, essv10855183, essv10855051, essv10855041, essv10855030, essv10854981, essv10854921, essv10855147, essv10854899, essv10855313, essv10855214, essv10854912, essv10855079, essv10855040, essv10855403, essv10855112, essv10855238, essv10855351, essv10855151, essv10855372, essv10855339, essv10855234, essv10855346, essv10855148, essv10855227, essv10854879, essv10855179, essv10854896, essv10855260, essv10855184, essv10855054, essv10855083, essv10855073, essv10855032, essv10855363, essv10855319, essv10855058, essv10854933, essv10855216, essv10855334, essv10855125, essv10855098, essv10855199, essv10855005, essv10855059, essv10855233, essv10854973, essv10855228, essv10855207, essv10855096, essv10854943, essv10855231, essv10855224, essv10855374, essv10855048, essv10854957, essv10855261, essv10855166, essv10855047, essv10854995, essv10854934, essv10854927, essv10855287, essv10854990, essv10855213, essv10855130, essv10855338, essv10855267, essv10854961, essv10855358, essv10855236, essv10855266, essv10855190, essv10855076, essv10855066, essv10855230, essv10855103, essv10855217, essv10855221, essv10854996, essv10855109, essv10855255, essv10855237, essv10855375, essv10855036, essv10854993, essv10855383, essv10855034, essv10855012, essv10855085, essv10854919, essv10855355, essv10855262, essv10855169, essv10855092, essv10855004, essv10855201, essv10855010, essv10855176, essv10855310, essv10854876, essv10855385, essv10855256, essv10854874, essv10855189, essv10854968, essv10855307, essv10854886, essv10855239, essv10854929, essv10855152, essv10855272, essv10855132, essv10855165, essv10855335, essv10855362, essv10855061, essv10854903, essv10854888, essv10855353, essv10855086, essv10855264, essv10855282, essv10855056, essv10855049, essv10854977, essv10854958, essv10855293, essv10854925, essv10855225, essv10855323, essv10854901, essv10855368, essv10855141, essv10855134, essv10855283, essv10855208, essv10854916, essv10854984, essv10854926, essv10855160, essv10855149, essv10855072, essv10854971, essv10855288, essv10855324, essv10855000, essv10855357, essv10854940, essv10855326, essv10855397, essv10855177, essv10855393, essv10855215, essv10855246, essv10855187, essv10855127, essv10855027, essv10855354, essv10855063, essv10855269, essv10855024, essv10855170, essv10854892, essv10855162, essv10855028, essv10854893, essv10855116, essv10854974, essv10854944, essv10855084, essv10855052, essv10855314, essv10855090, essv10855291, essv10855247, essv10855245, essv10854923, essv10855381, essv10854951, essv10855378, essv10855021, essv10855046, essv10854948, essv10854931, essv10855011, essv10854980, essv10854906, essv10855327, essv10855029, essv10854887, essv10855191, essv10855390, essv10855023, essv10855320, essv10854904, essv10855394, essv10855069, essv10855013, essv10855386, essv10855157, essv10854920, essv10855303, essv10855101, essv10854897, essv10855133, essv10855336, essv10855212, essv10855280, essv10855136, essv10855042, essv10854956, essv10855192, essv10855107, essv10855300, essv10855174, essv10855078, essv10855198, essv10855039, essv10854983, essv10855158, essv10855270, essv10854985, essv10855135, essv10855380, essv10855113, essv10854875, essv10855405, essv10855154, essv10854987
SamplesHG03593, HG01850, HG01402, NA20529, HG01918, NA21111, HG01965, HG04222, HG01602, HG01326, NA11931, HG03717, HG04076, NA12751, HG02600, NA19684, NA20863, HG02356, NA18633, HG03679, NA19067, NA20894, HG04059, NA19089, HG01325, HG00589, HG02690, HG02069, NA20589, HG01177, HG02156, HG01676, NA20911, NA18558, NA18574, HG02299, NA18582, HG03234, HG03978, NA18949, HG01519, NA21129, HG03649, HG01851, HG02134, HG01565, HG01164, NA18951, NA20892, NA12489, HG01847, HG00266, HG03685, NA19056, HG01122, HG02070, HG04039, NA20521, HG02084, NA19081, HG02728, NA18572, NA18948, HG04177, HG03781, NA18981, NA19064, NA20901, NA21086, HG00690, NA12829, HG02121, HG01613, HG02141, NA19059, HG02601, HG01334, NA19009, HG00099, HG02219, NA19625, HG02127, HG01257, HG03934, NA20851, HG03598, NA18533, HG04026, NA18564, HG03708, HG02088, NA12873, NA19010, HG03702, HG01798, NA19083, NA12347, NA20888, NA20897, NA19785, HG02401, NA19779, HG02116, HG01269, HG02348, HG01794, NA20503, HG02353, NA18624, HG02351, NA19074, NA18577, HG03989, HG01507, HG00593, HG03690, HG00592, HG00121, HG03731, HG03960, HG01079, HG02035, NA18599, HG02061, NA18603, NA12045, HG00452, HG03772, NA19669, NA18526, HG04001, HG02285, HG01341, HG02151, NA20890, HG01064, NA19723, HG01459, HG01710, NA20540, HG04131, HG01110, HG03793, HG03868, HG03851, HG01893, NA12282, NA19651, HG02224, HG01170, HG03624, HG01176, HG00637, NA18973, HG00530, HG03884, HG00675, HG00108, HG01699, HG01603, HG03709, HG00543, HG01784, NA18613, NA19707, HG01797, HG00428, HG03760, NA20809, NA18644, NA19327, NA18991, HG00500, NA19788, NA21098, HG04180, HG01777, HG01392, HG01414, NA19118, HG03824, NA19655, HG02494, HG01383, HG03625, HG04189, NA20282, HG03854, HG02081, HG01705, HG01708, HG01679, HG01865, NA18536, HG03991, HG02408, HG03940, NA18646, NA21143, HG01363, HG00476, HG00119, NA18535, NA19834, NA12775, NA19749, HG04239, HG03838, HG02064, HG01362, HG00136, HG00631, HG01951, NA18629, NA19786, NA18591, NA20803, NA21094, HG03681, NA20887, HG02181, NA19078, HG00707, HG01432, HG00446, NA18987, HG02032, HG00288, HG03998, HG00252, NA18984, NA07056, HG03922, HG01464, NA19004, HG01863, HG00345, HG03890, HG01097, HG01583, NA20509, HG01747, NA20511, NA12383, NA20761, HG01412, NA12842, HG02072, HG02002, NA20766, NA20508, HG01610, NA19066, NA21127, NA18565, HG02784, HG00766, HG02122, HG01066, HG00457, HG02012, HG01806, HG00181, HG01802, NA18959, HG00737, NA18616, HG01947, HG00449, NA20517, HG00097, HG03999, NA12399, NA18602, HG01522, HG03782, NA20814, NA18940, HG04038, HG02016, HG01351, HG00674, HG00599, HG02383, NA07347, NA18571, NA21108, HG01840, NA19904, NA20539, HG03887, HG00148, HG02187, HG00113, NA11994, HG01525, NA19722, HG00118, HG02427, HG01121, HG01626, HG02780, HG00253, HG00365, NA18539, NA20318, HG00743, HG02047, HG00154, NA18747, HG00443, HG01435, HG00380, HG03714, NA19670, NA19006, HG02345, NA20314, HG00556, NA20862, HG01768, HG00583, HG00263, HG01345, HG01077, HG02165, NA18534, HG01607, HG00740, HG03967, HG00284, NA18573, HG00651, NA18626, HG00531, HG00479, HG00350, NA20581, HG03713, HG02787, HG00140, HG01497, HG03971, HG03969, NA19761, HG03914, NA18963, HG03898, HG00864, HG00246, NA18570, NA19012, NA18974, NA18953, HG02660, HG00407, NA19003, HG04006, HG00625, HG01678, HG02220, HG01878, HG02790, HG03692, HG01551, NA19090, HG00473, NA19679, HG04099, HG03870, HG03727, NA18610, HG01489, HG03779, HG01086, HG02694, NA20847, HG03977, NA20849, NA21102, HG03733, HG00342, HG01846, HG01302, NA18636, NA11843, NA19080, HG02681, HG02774, NA20502, NA18957, NA11892, HG01111, HG02778, HG01125, NA18968, NA20585, NA19063, HG04061, NA21091, NA18620, HG00403, HG00881, NA21110, HG02250, NA21089, NA20877, NA11829, HG00524, NA20274, HG04211, NA21092, HG00367, NA19795, HG01465, NA19057, NA18596, HG03963, HG01456, HG00879, NA20796, HG01070, NA19762, HG03490, HG01997, HG00448, HG03976, HG03873, NA20905, HG02130, NA18642, NA19771, NA19088, HG01668, NA18964, NA18611, HG04214, NA18970, HG01067, HG03968, HG03595, HG03696, HG00422, NA18986, HG04238, HG00309, HG02571, NA20811, HG02073, NA18975, NA20533, HG00739, HG03862, HG00260, NA21106, NA18614, HG00313, NA18544, HG03785, HG03908, HG01248, HG00596, HG02513, HG01247, HG02025, NA12003, HG00190, HG01864, HG02397, HG00701, NA19913, HG02390, HG00598, HG04019, HG01119, NA19658, HG03919, HG01808, HG00619, HG01049, NA21116, HG03021, HG01390, NA18566, HG01311, NA20299, HG00956, HG03660, HG02649, HG02086, NA19740, HG03745, HG03634, HG01286, NA18945, HG01992, NA21087, NA21113, HG01444, HG03833, HG01190, NA19735, HG02049, HG00357, HG02651, HG00623, NA19773, NA19741, HG02139, HG04090, NA21126, HG00107, HG02398, HG01395, HG00111, HG00371, NA18971, HG01055, HG00123, HG03916, HG03615, HG01817, HG03894, HG01251, HG01775, HG02425, HG01672, HG03931, NA18622, HG03686, NA18562, HG03886, HG01926
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3594361
Frequency
Sample Size2504
Observed Gain0
Observed Loss533
Observed Complex0
Frequencyn/a


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