A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3613066



Internal ID6999964
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:47614040..47615388hg38UCSC Ensembl
Innerchr7:47614249..47615179hg38UCSC Ensembl
Outerchr7:47613831..47615597hg38UCSC Ensembl
chr7:47653638..47654986hg19UCSC Ensembl
Innerchr7:47653847..47654777hg19UCSC Ensembl
Outerchr7:47653429..47655195hg19UCSC Ensembl
Cytoband7p12.3
Allele length
AssemblyAllele length
hg381349
hg191349
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12761157, essv12761084, essv12761331, essv12761291, essv12761098, essv12761077, essv12761180, essv12761131, essv12761145, essv12761089, essv12761426, essv12761126, essv12761231, essv12761340, essv12761235, essv12761329, essv12761276, essv12761236, essv12761227, essv12761230, essv12761417, essv12761333, essv12761171, essv12761143, essv12761066, essv12761386, essv12761301, essv12761377, essv12761430, essv12761219, essv12761303, essv12761216, essv12761389, essv12761366, essv12761363, essv12761154, essv12761161, essv12761133, essv12761262, essv12761061, essv12761091, essv12761467, essv12761449, essv12761123, essv12761093, essv12761103, essv12761049, essv12761085, essv12761335, essv12761374, essv12761316, essv12761277, essv12761373, essv12761174, essv12761193, essv12761272, essv12761326, essv12761287, essv12761413, essv12761207, essv12761183, essv12761215, essv12761337, essv12761165, essv12761447, essv12761450, essv12761423, essv12761125, essv12761208, essv12761370, essv12761403, essv12761190, essv12761065, essv12761228, essv12761137, essv12761390, essv12761292, essv12761419, essv12761266, essv12761146, essv12761445, essv12761296, essv12761111, essv12761194, essv12761115, essv12761163, essv12761255, essv12761250, essv12761122, essv12761182, essv12761200, essv12761058, essv12761198, essv12761192, essv12761400, essv12761218, essv12761057, essv12761379, essv12761234, essv12761114, essv12761401, essv12761317, essv12761206, essv12761372, essv12761220, essv12761252, essv12761442, essv12761162, essv12761064, essv12761152, essv12761336, essv12761056, essv12761371, essv12761102, essv12761397, essv12761249, essv12761376, essv12761186, essv12761264, essv12761269, essv12761120, essv12761387, essv12761293, essv12761393, essv12761225, essv12761147, essv12761148, essv12761307, essv12761282, essv12761081, essv12761324, essv12761353, essv12761178, essv12761375, essv12761322, essv12761256, essv12761245, essv12761141, essv12761118, essv12761079, essv12761187, essv12761113, essv12761092, essv12761144, essv12761090, essv12761436, essv12761181, essv12761053, essv12761355, essv12761052, essv12761153, essv12761330, essv12761080, essv12761359, essv12761242, essv12761456, essv12761116, essv12761166, essv12761412, essv12761087, essv12761168, essv12761464, essv12761391, essv12761288, essv12761378, essv12761305, essv12761117, essv12761248, essv12761221, essv12761099, essv12761425, essv12761263, essv12761213, essv12761452, essv12761189, essv12761428, essv12761304, essv12761150, essv12761124, essv12761072, essv12761440, essv12761439, essv12761343, essv12761108, essv12761451, essv12761422, essv12761448, essv12761253, essv12761101, essv12761267, essv12761310, essv12761055, essv12761416, essv12761229, essv12761073, essv12761465, essv12761388, essv12761233, essv12761380, essv12761197, essv12761257, essv12761159, essv12761202, essv12761315, essv12761083, essv12761195, essv12761384, essv12761332, essv12761289, essv12761179, essv12761299, essv12761241, essv12761214, essv12761392, essv12761156, essv12761308, essv12761350, essv12761341, essv12761411, essv12761409, essv12761319, essv12761135, essv12761270, essv12761338, essv12761357, essv12761463, essv12761354, essv12761395, essv12761437, essv12761421, essv12761259, essv12761119, essv12761311, essv12761247, essv12761418, essv12761406, essv12761302, essv12761237, essv12761142, essv12761438, essv12761075, essv12761358, essv12761369, essv12761238, essv12761175, essv12761086, essv12761244, essv12761246, essv12761169, essv12761082, essv12761068, essv12761398, essv12761280, essv12761410, essv12761405, essv12761367, essv12761349, essv12761226, essv12761271, essv12761191, essv12761441, essv12761356, essv12761402, essv12761327, essv12761204, essv12761273, essv12761096, essv12761062, essv12761306, essv12761121, essv12761457, essv12761275, essv12761260, essv12761360, essv12761094, essv12761454, essv12761158, essv12761346, essv12761261, essv12761209, essv12761429, essv12761173, essv12761432, essv12761172, essv12761078, essv12761274, essv12761347, essv12761320, essv12761334, essv12761283, essv12761095, essv12761063, essv12761105, essv12761321, essv12761110, essv12761433, essv12761211, essv12761240, essv12761176, essv12761300, essv12761050, essv12761258, essv12761313, essv12761243, essv12761140, essv12761281, essv12761149, essv12761453, essv12761222, essv12761458, essv12761312, essv12761139, essv12761385, essv12761420, essv12761461, essv12761217, essv12761342, essv12761134, essv12761205, essv12761076, essv12761203, essv12761210, essv12761361, essv12761239, essv12761345, essv12761466, essv12761414, essv12761151, essv12761455, essv12761232, essv12761136, essv12761188, essv12761196, essv12761435, essv12761309, essv12761059, essv12761368, essv12761427, essv12761462, essv12761184, essv12761212, essv12761106, essv12761223, essv12761298, essv12761268, essv12761067, essv12761104, essv12761054, essv12761167, essv12761071, essv12761459, essv12761107, essv12761284, essv12761138, essv12761446, essv12761424, essv12761365, essv12761097, essv12761155, essv12761254, essv12761251, essv12761339, essv12761048, essv12761170, essv12761224, essv12761325, essv12761396, essv12761352, essv12761318, essv12761109, essv12761297, essv12761185, essv12761129, essv12761070, essv12761294, essv12761201, essv12761177, essv12761051, essv12761444, essv12761415, essv12761278, essv12761383, essv12761348, essv12761286, essv12761265, essv12761394, essv12761314, essv12761160, essv12761088, essv12761069, essv12761460, essv12761295, essv12761362, essv12761351, essv12761132, essv12761364, essv12761382, essv12761323, essv12761408, essv12761404, essv12761127, essv12761285, essv12761128, essv12761443, essv12761060, essv12761164, essv12761130, essv12761434, essv12761407, essv12761290, essv12761381, essv12761328, essv12761279, essv12761199, essv12761399, essv12761074, essv12761431, essv12761344, essv12761112, essv12761100
SamplesNA20511, HG02386, NA20588, HG00442, NA19058, HG04096, HG00608, NA18621, NA12286, HG00671, NA19066, NA18647, NA18565, HG02026, HG01815, NA20878, HG02122, HG00257, NA18979, HG02727, HG01066, HG00315, NA18528, HG00729, NA18639, HG01806, HG03941, HG02691, HG02017, HG01802, HG03926, HG02382, NA20864, NA18530, NA18959, HG03515, NA18616, HG02384, HG00654, HG02356, NA12750, NA19067, NA18602, NA18988, NA18969, NA18627, HG00663, NA18563, NA18940, HG04038, NA18597, HG01702, NA18995, HG00674, HG02146, HG01168, HG01766, NA18567, HG02521, NA18993, NA18547, HG02266, NA18960, NA18618, HG03604, NA18574, HG03874, NA18571, HG01528, HG01840, HG00451, HG00537, NA19079, NA18949, HG02131, NA19720, HG02252, HG02389, NA12044, HG03691, HG01849, HG00534, NA18966, HG03814, HG04047, HG01844, NA18557, HG02260, HG00323, HG02409, HG02164, HG01851, HG02134, HG02716, HG02047, NA18951, NA18747, HG01847, HG00443, NA19091, HG00380, NA19056, NA19006, HG04146, HG02075, HG00332, HG02142, HG01857, HG03786, HG00732, HG00657, HG02775, HG01845, NA19081, HG03771, HG03775, NA18948, HG01796, HG01029, NA18981, NA19064, HG04235, NA18537, HG03967, HG00651, NA18626, HG00479, HG03631, HG02259, HG03643, NA19752, NA18553, NA19059, NA18555, NA18963, HG04159, HG00864, HG04118, HG01572, NA18593, HG03694, HG01811, NA18953, NA19003, HG01858, HG01812, HG03598, NA19652, HG02089, HG03848, HG00336, HG00625, HG02088, NA18628, NA19072, HG02790, HG02355, HG01551, HG02304, HG02391, NA19010, HG01866, HG02179, NA20902, NA18943, HG02137, HG02019, HG02188, HG03779, HG00620, HG02371, HG02133, HG04080, HG01861, HG01086, HG03600, HG00614, HG00513, HG00478, NA18631, HG02401, HG00381, HG01935, HG03977, HG01868, HG00342, NA18636, HG01799, HG03716, HG01600, NA11843, HG02182, HG02681, HG00728, NA18983, HG01794, HG00595, NA20502, NA18989, NA18968, NA18624, NA12006, NA19063, HG04153, HG03815, HG02406, HG01805, HG00581, HG03271, HG01507, HG00593, NA18997, HG03690, HG00403, HG03812, HG00592, HG02250, NA19055, HG03652, HG00536, HG00231, NA18592, HG00524, HG01860, HG01855, HG04229, NA18561, NA18507, NA18599, HG02061, NA18603, HG02360, HG00699, HG03668, HG02277, NA18596, HG03772, NA18606, HG03895, HG02394, HG03792, HG00879, NA18526, HG02023, HG01809, HG03950, HG01924, NA19076, NA19005, HG04022, HG03757, HG02407, NA19762, HG01853, NA18595, HG02491, HG02087, HG01997, HG02155, NA19723, NA18982, HG03873, HG02687, HG01843, NA18942, HG02130, HG02374, NA18642, NA19088, NA19054, HG00369, HG01848, NA18964, NA20910, NA18611, HG01893, HG01134, NA18749, HG02493, NA18970, HG00683, HG00379, HG03986, HG03968, HG02512, HG02067, HG02003, HG02224, NA18560, HG01046, NA19075, HG03696, HG03777, HG01405, NA21107, NA18986, HG01892, NA19087, NA19002, HG01932, HG02138, HG02180, NA18975, NA20533, NA18973, NA18954, HG00419, HG03270, HG00675, HG00464, HG01942, NA18614, NA10847, HG02402, HG03780, HG02166, HG02265, NA18613, NA19082, HG00982, HG00596, HG01595, HG02152, NA19077, HG02090, HG00653, HG00701, HG02076, HG00475, HG00436, HG00584, HG02390, HG00500, NA18976, HG01852, NA19776, HG01049, NA18566, HG00273, HG03871, NA19000, HG00956, HG00844, HG03078, HG02008, NA18946, HG02086, HG00525, HG00157, HG03854, HG02184, HG02031, HG03774, NA21142, NA18634, HG02408, HG02399, HG01596, NA18546, NA21087, HG00476, NA18542, HG03866, NA20801, HG04188, NA11881, NA18952, NA18559, NA19735, HG02049, HG00565, HG00366, HG02064, NA18941, HG00278, NA07051, HG01598, HG00631, HG01951, HG00607, HG01933, NA18591, HG02139, NA20803, NA21126, NA19085, HG03681, HG02181, HG01801, HG00707, HG00672, HG04015, HG01917, NA20868, HG01028, HG00378, NA18987, HG02392, HG02113, HG03684, HG02410, NA19726, HG03894, HG02186, HG00343, NA20886, NA18984, HG00472, HG02028, HG03856, HG01863, HG00759, HG01869, NA18549, HG01578, NA18622, HG00978, NA18562, HG02060, NA18965
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3613066
Frequency
Sample Size2504
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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