A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3618330



Internal ID7005212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107492557..107494161hg38UCSC Ensembl
Innerchr8:107492557..107494161hg38UCSC Ensembl
Outerchr8:107492218..107494486hg38UCSC Ensembl
chr8:108504785..108506389hg19UCSC Ensembl
Innerchr8:108504785..108506389hg19UCSC Ensembl
Outerchr8:108504446..108506714hg19UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381605
hg191605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13279223, essv13279229, essv13279408, essv13279377, essv13279133, essv13279171, essv13279298, essv13279089, essv13279169, essv13279144, essv13279279, essv13279294, essv13279184, essv13279420, essv13279306, essv13279114, essv13279413, essv13279095, essv13279228, essv13279134, essv13279222, essv13279183, essv13279247, essv13279236, essv13279272, essv13279340, essv13279251, essv13279192, essv13279137, essv13279363, essv13279260, essv13279227, essv13279188, essv13279180, essv13279354, essv13279378, essv13279231, essv13279230, essv13279374, essv13279071, essv13279320, essv13279371, essv13279177, essv13279352, essv13279396, essv13279266, essv13279259, essv13279155, essv13279085, essv13279138, essv13279307, essv13279265, essv13279242, essv13279390, essv13279269, essv13279318, essv13279234, essv13279276, essv13279218, essv13279281, essv13279214, essv13279206, essv13279418, essv13279090, essv13279197, essv13279295, essv13279117, essv13279349, essv13279072, essv13279174, essv13279411, essv13279267, essv13279200, essv13279123, essv13279263, essv13279209, essv13279310, essv13279392, essv13279395, essv13279333, essv13279334, essv13279094, essv13279383, essv13279296, essv13279410, essv13279129, essv13279104, essv13279376, essv13279312, essv13279185, essv13279337, essv13279167, essv13279215, essv13279305, essv13279421, essv13279208, essv13279175, essv13279407, essv13279073, essv13279143, essv13279173, essv13279409, essv13279311, essv13279398, essv13279128, essv13279406, essv13279315, essv13279264, essv13279416, essv13279205, essv13279163, essv13279119, essv13279429, essv13279212, essv13279181, essv13279153, essv13279271, essv13279329, essv13279397, essv13279142, essv13279324, essv13279248, essv13279302, essv13279317, essv13279403, essv13279344, essv13279083, essv13279365, essv13279176, essv13279084, essv13279110, essv13279096, essv13279233, essv13279136, essv13279412, essv13279404, essv13279358, essv13279280, essv13279125, essv13279309, essv13279346, essv13279130, essv13279368, essv13279386, essv13279274, essv13279150, essv13279362, essv13279170, essv13279162, essv13279316, essv13279243, essv13279394, essv13279360, essv13279282, essv13279216, essv13279098, essv13279082, essv13279168, essv13279147, essv13279427, essv13279241, essv13279213, essv13279289, essv13279113, essv13279103, essv13279210, essv13279179, essv13279091, essv13279426, essv13279075, essv13279258, essv13279321, essv13279385, essv13279070, essv13279422, essv13279115, essv13279101, essv13279357, essv13279323, essv13279356, essv13279415, essv13279270, essv13279255, essv13279219, essv13279154, essv13279300, essv13279313, essv13279097, essv13279244, essv13279190, essv13279402, essv13279387, essv13279283, essv13279273, essv13279257, essv13279278, essv13279221, essv13279382, essv13279335, essv13279350, essv13279288, essv13279245, essv13279121, essv13279107, essv13279249, essv13279195, essv13279152, essv13279211, essv13279131, essv13279217, essv13279093, essv13279122, essv13279198, essv13279088, essv13279342, essv13279341, essv13279268, essv13279100, essv13279355, essv13279224, essv13279370, essv13279237, essv13279141, essv13279126, essv13279319, essv13279145, essv13279253, essv13279424, essv13279326, essv13279431, essv13279379, essv13279399, essv13279375, essv13279325, essv13279314, essv13279201, essv13279159, essv13279353, essv13279308, essv13279290, essv13279232, essv13279186, essv13279069, essv13279423, essv13279351, essv13279303, essv13279359, essv13279157, essv13279400, essv13279189, essv13279132, essv13279120, essv13279099, essv13279388, essv13279080, essv13279299, essv13279092, essv13279330, essv13279199, essv13279391, essv13279148, essv13279380, essv13279124, essv13279203, essv13279348, essv13279284, essv13279178, essv13279182, essv13279250, essv13279425, essv13279161, essv13279194, essv13279401, essv13279220, essv13279331, essv13279108, essv13279384, essv13279076, essv13279196, essv13279111, essv13279366, essv13279361, essv13279240, essv13279226, essv13279127, essv13279140, essv13279339, essv13279286, essv13279158, essv13279109, essv13279343, essv13279327, essv13279277, essv13279292, essv13279074, essv13279419, essv13279102, essv13279414, essv13279293, essv13279285, essv13279304, essv13279338, essv13279191, essv13279372, essv13279079, essv13279112, essv13279172, essv13279332, essv13279164, essv13279118, essv13279105, essv13279364, essv13279239, essv13279165, essv13279116, essv13279322, essv13279086, essv13279235, essv13279417, essv13279275, essv13279146, essv13279256, essv13279193, essv13279252, essv13279367, essv13279160, essv13279328, essv13279246, essv13279202, essv13279151, essv13279430, essv13279297, essv13279433, essv13279347, essv13279187, essv13279204, essv13279345, essv13279262, essv13279139, essv13279336, essv13279261, essv13279207, essv13279301, essv13279106, essv13279254, essv13279087, essv13279405, essv13279166, essv13279156, essv13279238, essv13279393, essv13279135, essv13279373, essv13279291, essv13279389, essv13279369, essv13279428, essv13279381, essv13279287, essv13279432, essv13279225, essv13279078, essv13279149, essv13279081, essv13279077
SamplesHG04210, NA18502, NA20761, HG03593, HG02628, NA12842, HG03121, HG03228, NA19664, HG03753, HG02784, HG01815, HG01602, HG03517, NA21100, HG02727, HG04076, HG02804, HG02691, HG02323, HG03926, HG02050, NA18616, HG01518, HG02154, HG02356, NA19443, HG01704, NA20806, NA19067, HG04156, NA20894, HG03782, HG01873, HG03603, NA19171, HG03645, HG03770, HG02016, NA19315, HG03754, NA20589, HG01351, HG00599, HG04206, NA20911, HG02756, HG00238, NA18558, HG02860, NA18574, HG04182, HG03874, HG00243, NA20291, NA19079, HG02143, HG02597, HG03947, HG00705, NA18966, HG02178, NA20889, HG01133, NA20355, HG03585, HG01967, NA18645, HG00349, NA12777, HG02442, HG03697, HG00731, HG01847, HG03861, HG03132, NA19091, NA18525, NA19006, HG03718, HG02345, HG00557, NA20885, HG03786, HG02057, HG00732, HG04195, HG00101, HG00344, HG01498, HG01941, NA18579, HG03575, NA20875, NA18871, HG02508, HG01149, NA18534, HG03027, HG04177, HG03781, HG01607, NA18981, HG00740, HG03967, HG01047, HG00651, NA20903, NA20866, NA20901, HG01870, HG04173, HG02657, HG02121, HG02259, HG04017, HG03971, HG01334, HG02979, HG03752, NA18531, HG01697, HG02896, HG00240, NA18858, NA18593, HG01956, HG00376, NA19012, HG01896, NA12043, HG02772, HG03720, NA20872, HG04216, HG04227, HG01597, HG00336, HG04026, NA19434, HG03539, HG02611, NA19010, HG03869, HG03304, HG03473, HG02019, NA18615, HG03779, HG03729, HG01861, HG01785, HG01765, HG02373, HG02401, NA20847, HG03977, HG03097, HG01868, NA21102, HG01846, NA20852, HG02116, NA18876, NA19080, NA19711, HG04171, HG03077, HG02681, HG00728, HG02353, HG01431, NA18989, HG02020, NA12006, HG02351, HG03867, NA19065, HG03815, HG01805, NA20908, HG03439, NA19074, HG00553, HG03265, NA18620, HG03271, HG04198, HG02614, NA21097, HG00121, HG02250, HG01356, HG01054, HG00536, NA21089, NA19466, HG03548, HG03821, NA18980, HG03589, HG01389, NA19020, NA18917, HG02891, NA20321, HG03280, HG01465, HG03668, HG02058, NA19777, NA21115, HG01944, HG04164, HG03667, HG00177, HG03836, HG03235, NA19792, NA19746, HG03464, HG00251, NA19201, HG03705, HG03135, HG02407, HG02325, HG02155, HG03937, HG03873, HG02687, HG03485, NA20905, HG03370, HG00610, HG03885, NA21103, HG04131, HG03762, HG02922, HG03460, NA19651, NA18970, HG02703, HG01067, HG00683, HG02490, HG00106, HG01813, NA19137, HG01369, HG01046, HG01308, NA21107, NA19159, HG02571, HG01932, NA19725, HG03750, NA21114, NA20533, NA18908, HG03114, NA18954, HG00530, NA21122, HG01942, NA19007, HG02009, HG02737, HG02402, HG03780, HG02166, HG03054, HG01248, HG01841, HG01871, NA19077, HG00428, NA12872, HG01864, HG00653, HG02076, HG01938, NA19236, NA19788, HG04035, HG03945, NA21118, HG02968, NA20767, HG02470, HG01852, NA19776, NA18757, NA18566, HG03742, HG03858, HG01197, NA18499, HG02604, HG01383, HG01182, HG03740, HG04189, HG00525, NA12827, HG02725, HG03354, NA19095, HG00410, HG02399, HG01992, NA18608, HG01363, HG01444, NA19206, HG03778, HG04188, HG03790, NA18961, NA18559, HG02759, HG02049, HG02696, HG02682, HG00375, HG01915, HG01253, HG00638, HG00278, HG00623, NA07051, NA20785, NA18992, HG03012, NA21126, NA19085, NA06986, NA20887, HG03084, NA19078, HG03432, HG04015, HG03789, HG03646, HG01028, HG00378, NA12749, HG03049, NA20334, HG02392, HG03022, HG03998, HG01817, HG02052, HG01377, NA18984, HG02861, HG02028, HG03882, HG03890, HG00759, HG02629, HG03931
Known GenesANGPT1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3618330
Frequency
Sample Size2504
Observed Gain0
Observed Loss365
Observed Complex0
Frequencyn/a


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