A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3631192



Internal ID7018004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:129917789..130098316hg38UCSC Ensembl
chr12:130402334..130582861hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38180528
hg19180528
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14633303, essv14633410, essv14633392, essv14633323, essv14633225, essv14633189, essv14633129, essv14633229, essv14633365, essv14633281, essv14633216, essv14633278, essv14633111, essv14633153, essv14633233, essv14633422, essv14633328, essv14633215, essv14633201, essv14633339, essv14633420, essv14633378, essv14633150, essv14633371, essv14633373, essv14633160, essv14633152, essv14633131, essv14633319, essv14633209, essv14633246, essv14633388, essv14633351, essv14633326, essv14633380, essv14633338, essv14633230, essv14633179, essv14633164, essv14633232, essv14633393, essv14633169, essv14633330, essv14633248, essv14633293, essv14633368, essv14633327, essv14633148, essv14633374, essv14633236, essv14633161, essv14633421, essv14633239, essv14633140, essv14633176, essv14633401, essv14633266, essv14633132, essv14633418, essv14633366, essv14633253, essv14633177, essv14633221, essv14633395, essv14633273, essv14633257, essv14633275, essv14633355, essv14633304, essv14633167, essv14633175, essv14633196, essv14633186, essv14633306, essv14633354, essv14633255, essv14633262, essv14633429, essv14633316, essv14633243, essv14633403, essv14633346, essv14633360, essv14633415, essv14633155, essv14633372, essv14633384, essv14633345, essv14633261, essv14633247, essv14633163, essv14633331, essv14633210, essv14633375, essv14633317, essv14633159, essv14633264, essv14633376, essv14633347, essv14633427, essv14633200, essv14633222, essv14633367, essv14633325, essv14633291, essv14633181, essv14633277, essv14633310, essv14633377, essv14633168, essv14633309, essv14633139, essv14633117, essv14633311, essv14633178, essv14633318, essv14633188, essv14633283, essv14633287, essv14633203, essv14633320, essv14633314, essv14633349, essv14633184, essv14633151, essv14633342, essv14633432, essv14633149, essv14633276, essv14633288, essv14633154, essv14633406, essv14633362, essv14633138, essv14633386, essv14633305, essv14633124, essv14633284, essv14633174, essv14633113, essv14633364, essv14633126, essv14633185, essv14633300, essv14633130, essv14633424, essv14633166, essv14633296, essv14633142, essv14633336, essv14633298, essv14633118, essv14633125, essv14633212, essv14633204, essv14633187, essv14633127, essv14633343, essv14633170, essv14633227, essv14633435, essv14633135, essv14633234, essv14633290, essv14633192, essv14633359, essv14633213, essv14633190, essv14633382, essv14633334, essv14633114, essv14633321, essv14633370, essv14633412, essv14633231, essv14633385, essv14633369, essv14633211, essv14633407, essv14633156, essv14633389, essv14633397, essv14633436, essv14633265, essv14633112, essv14633417, essv14633115, essv14633434, essv14633333, essv14633404, essv14633120, essv14633237, essv14633145, essv14633272, essv14633335, essv14633352, essv14633394, essv14633137, essv14633402, essv14633141, essv14633294, essv14633292, essv14633390, essv14633259, essv14633431, essv14633315, essv14633387, essv14633205, essv14633396, essv14633180, essv14633285, essv14633297, essv14633158, essv14633340, essv14633146, essv14633348, essv14633134, essv14633282, essv14633171, essv14633356, essv14633324, essv14633226, essv14633254, essv14633341, essv14633350, essv14633381, essv14633279, essv14633165, essv14633329, essv14633286, essv14633271, essv14633251, essv14633198, essv14633119, essv14633301, essv14633274, essv14633267, essv14633337, essv14633172, essv14633312, essv14633263, essv14633242, essv14633313, essv14633157, essv14633208, essv14633400, essv14633361, essv14633260, essv14633353, essv14633183, essv14633423, essv14633252, essv14633244, essv14633202, essv14633289, essv14633245, essv14633358, essv14633173, essv14633357, essv14633363, essv14633217, essv14633295, essv14633425, essv14633426, essv14633182, essv14633258, essv14633219, essv14633162, essv14633136, essv14633194, essv14633191, essv14633411, essv14633143, essv14633128, essv14633228, essv14633379, essv14633256, essv14633302, essv14633269, essv14633193, essv14633121, essv14633430, essv14633308, essv14633405, essv14633322, essv14633123, essv14633413, essv14633214, essv14633249, essv14633240, essv14633116, essv14633280, essv14633409, essv14633299, essv14633433, essv14633223, essv14633391, essv14633207, essv14633206, essv14633144, essv14633235, essv14633133, essv14633419, essv14633250, essv14633270, essv14633122, essv14633195, essv14633398, essv14633416, essv14633241, essv14633224, essv14633220, essv14633147, essv14633344, essv14633199, essv14633428, essv14633383, essv14633414, essv14633408, essv14633238, essv14633399, essv14633268, essv14633197, essv14633332, essv14633307, essv14633218
SamplesHG04210, HG01850, HG01412, HG01402, HG04096, HG01918, HG02072, HG04222, HG03687, HG03753, HG02784, HG01326, HG03717, HG02661, HG02727, NA19350, HG02691, HG03926, HG03018, HG02688, HG03999, HG03478, NA18988, HG03782, HG03837, HG01873, HG03645, HG03770, HG03016, HG02690, HG03754, HG03722, HG04206, HG01968, HG03736, HG03874, HG03663, HG04070, HG02733, HG00451, HG02603, HG03917, HG01859, HG04033, HG03619, HG02736, HG03947, HG01973, HG04047, HG02545, HG02780, HG02477, HG04075, HG03784, NA19921, HG01851, HG01164, HG01847, HG03861, HG03685, HG03714, HG02793, HG03718, HG02075, HG00557, HG04039, HG01857, HG03786, HG02057, HG02731, HG02775, HG01845, HG03771, HG03775, HG02728, HG01077, HG01323, HG03781, HG03967, HG03730, NA20903, HG03951, HG02577, HG03713, HG02787, HG02657, HG02121, HG03643, HG04017, HG01101, HG03953, HG04063, HG03971, HG02783, HG02724, HG02601, HG03969, HG03752, NA18593, HG04093, HG04200, HG03653, HG03720, HG03238, HG02660, HG01858, HG04025, HG03848, HG04216, HG04227, HG04006, NA21144, HG04026, HG03875, HG03708, HG02546, HG03949, HG02790, HG03695, HG02304, HG01874, HG01396, HG03702, NA20792, HG03869, HG04099, NA21095, HG03870, HG02580, HG03727, HG03779, HG03703, HG04080, HG03729, HG02700, HG03642, HG03977, HG03849, HG03733, HG02079, HG01846, HG01302, HG03716, HG04098, HG01600, HG01269, HG02681, HG02774, HG02778, HG03867, HG03989, HG03864, HG04198, HG03741, HG04212, HG01060, HG03773, HG01413, HG03857, HG02652, HG01303, HG03965, HG03731, HG03960, NA18592, HG01773, HG03237, HG01855, HG04229, HG02648, HG02262, HG04202, HG03738, HG04211, HG02150, HG04002, HG04094, HG01305, HG03668, HG03963, HG03772, HG04018, HG03895, HG03667, HG02734, HG03836, HG03950, HG03680, HG04100, HG03640, HG03757, HG01853, HG02491, HG02541, HG02155, NA19723, HG03873, HG03765, HG02687, HG02549, HG01843, HG01599, HG02655, HG03479, HG01848, HG01982, HG02786, HG01242, HG03868, HG03851, HG01893, HG04214, HG02493, HG03897, HG03986, HG03968, HG02490, HG01170, HG01072, HG03788, HG04106, HG03746, HG03696, HG03777, HG01176, HG03693, HG04238, HG03995, HG03744, HG03750, HG01312, HG03862, HG03709, HG02737, HG01183, HG03844, HG03785, HG02439, HG01841, HG01187, HG04225, HG01871, HG01797, HG03787, HG03644, NA19077, HG02697, HG03760, HG04107, HG02076, HG04035, HG03945, HG04019, HG03756, HG02102, HG02497, HG01852, HG02789, HG02555, HG01092, HG03742, HG01777, HG01392, HG01311, HG01161, HG03871, HG01414, HG03660, HG03858, HG02494, HG01197, HG02604, HG02649, HG01241, HG03974, HG03740, HG03625, HG01921, HG03745, HG03634, HG02725, HG03774, HG01204, HG00128, HG01992, HG02455, HG04219, HG03778, HG02684, HG03790, HG01954, HG04239, HG02696, HG02682, HG03838, HG03899, HG03689, HG02651, HG01977, HG03850, HG02685, NA19818, HG01395, HG04015, HG03789, HG01917, HG03646, HG03863, HG02699, HG02654, HG04209, HG03684, HG00186, HG01872, HG03894, HG00372, HG03882, HG03856, HG04056, NA20763, HG03890, HG03686, HG01695, HG01583, HG01061, HG01976
Known GenesLOC100190940
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3631192
Frequency
Sample Size2504
Observed Gain326
Observed Loss0
Observed Complex0
Frequencyn/a


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