A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616505



Internal ID7003391
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17893457..17895004hg38UCSC Ensembl
Innerchr8:17893457..17895004hg38UCSC Ensembl
Outerchr8:17893282..17895296hg38UCSC Ensembl
chr8:17750966..17752513hg19UCSC Ensembl
Innerchr8:17750966..17752513hg19UCSC Ensembl
Outerchr8:17750791..17752805hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381548
hg191548
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13129007, essv13129140, essv13129290, essv13129129, essv13129097, essv13129086, essv13129064, essv13129156, essv13128983, essv13129248, essv13128921, essv13129151, essv13129264, essv13129182, essv13129261, essv13128967, essv13129271, essv13129279, essv13129085, essv13128966, essv13129282, essv13129194, essv13128987, essv13129165, essv13128994, essv13129169, essv13129137, essv13129302, essv13129235, essv13129138, essv13128989, essv13129215, essv13128935, essv13128982, essv13129314, essv13129221, essv13129131, essv13129291, essv13129130, essv13129253, essv13129120, essv13129058, essv13129171, essv13128992, essv13129298, essv13129166, essv13129318, essv13129167, essv13129222, essv13129113, essv13129117, essv13129105, essv13129191, essv13129080, essv13129255, essv13129163, essv13129091, essv13129305, essv13128937, essv13128928, essv13129144, essv13129133, essv13129088, essv13129060, essv13129202, essv13129021, essv13128997, essv13129155, essv13129100, essv13129170, essv13129036, essv13129204, essv13129299, essv13129108, essv13129008, essv13129192, essv13129273, essv13129247, essv13129123, essv13129023, essv13129244, essv13129118, essv13129094, essv13129150, essv13129119, essv13128986, essv13128944, essv13129283, essv13129090, essv13129198, essv13129037, essv13129277, essv13129002, essv13128985, essv13129154, essv13129219, essv13128964, essv13128991, essv13129135, essv13128957, essv13129224, essv13129069, essv13129013, essv13129329, essv13129048, essv13129104, essv13128931, essv13129272, essv13129005, essv13129324, essv13129243, essv13128995, essv13129217, essv13128932, essv13129263, essv13129110, essv13129242, essv13128945, essv13129075, essv13129077, essv13128936, essv13129338, essv13129003, essv13129139, essv13129201, essv13129076, essv13129252, essv13129062, essv13129047, essv13129044, essv13129285, essv13129259, essv13129205, essv13129114, essv13129073, essv13128923, essv13129237, essv13129043, essv13129016, essv13128930, essv13129270, essv13129188, essv13129041, essv13129022, essv13129337, essv13129330, essv13129320, essv13129125, essv13129124, essv13129288, essv13129146, essv13129178, essv13129266, essv13128954, essv13129257, essv13128988, essv13129274, essv13129214, essv13129179, essv13129310, essv13129187, essv13129112, essv13129209, essv13128917, essv13129145, essv13129269, essv13129229, essv13129181, essv13129287, essv13129070, essv13129245, essv13128942, essv13129331, essv13129175, essv13129027, essv13129296, essv13129278, essv13129046, essv13129200, essv13129087, essv13129226, essv13129276, essv13129180, essv13129321, essv13129126, essv13129063, essv13129019, essv13128968, essv13129149, essv13129303, essv13129183, essv13129260, essv13129020, essv13129240, essv13128973, essv13129079, essv13128996, essv13129106, essv13129051, essv13128990, essv13129295, essv13128963, essv13129172, essv13129207, essv13129309, essv13129246, essv13129111, essv13129084, essv13129161, essv13129065, essv13129216, essv13129028, essv13129197, essv13128949, essv13129011, essv13128919, essv13128970, essv13129256, essv13129134, essv13129289, essv13128961, essv13129160, essv13129049, essv13129001, essv13129083, essv13128965, essv13129316, essv13129162, essv13129018, essv13128940, essv13129186, essv13128955, essv13128960, essv13128925, essv13129031, essv13129115, essv13129223, essv13129107, essv13129009, essv13129152, essv13128962, essv13128946, essv13128920, essv13128993, essv13129251, essv13128999, essv13129254, essv13129334, essv13129122, essv13129158, essv13129012, essv13129336, essv13129173, essv13128924, essv13129218, essv13129153, essv13128972, essv13129035, essv13128979, essv13129127, essv13129233, essv13129176, essv13129017, essv13128926, essv13129239, essv13129116, essv13128927, essv13129109, essv13129067, essv13128918, essv13129308, essv13129045, essv13129000, essv13128959, essv13129185, essv13129326, essv13129199, essv13129101, essv13129030, essv13129184, essv13129168, essv13129232, essv13129103, essv13129102, essv13129322, essv13128952, essv13129281, essv13128981, essv13129095, essv13129332, essv13129262, essv13129081, essv13129142, essv13129141, essv13129213, essv13129335, essv13129143, essv13129059, essv13128978, essv13129164, essv13129148, essv13129072, essv13129092, essv13129078, essv13129039, essv13128998, essv13129327, essv13129025, essv13129026, essv13129228, essv13129325, essv13128976, essv13129317, essv13129053, essv13129099, essv13129319, essv13129297, essv13129189, essv13129323, essv13129301, essv13129006, essv13128977, essv13129225, essv13128943, essv13129177, essv13129082, essv13129307, essv13129210, essv13129286, essv13129249, essv13129096, essv13128951, essv13128941, essv13129304, essv13128948, essv13129038, essv13129280, essv13129015, essv13129014, essv13129267, essv13129196, essv13129230, essv13129004, essv13129010, essv13129241, essv13129024, essv13129033, essv13129136, essv13129231, essv13129258, essv13129292, essv13129147, essv13129159, essv13129052, essv13129250, essv13129093, essv13128938, essv13129306, essv13129234, essv13129300, essv13128953, essv13129203, essv13129121, essv13129032, essv13129068, essv13129042, essv13129098, essv13129128, essv13129034, essv13129265, essv13128956, essv13128950, essv13128933, essv13129293, essv13129328, essv13129132, essv13128947, essv13129208, essv13129054, essv13129206, essv13129055, essv13129089, essv13129333, essv13128971, essv13128984, essv13128958, essv13129211, essv13129066, essv13129061, essv13129275, essv13129057, essv13129071, essv13129227, essv13128980, essv13128974, essv13128969, essv13128934, essv13129312, essv13129050, essv13128939, essv13129294, essv13129284, essv13129190, essv13129174, essv13129056, essv13129315, essv13129157, essv13129212, essv13129195, essv13128929, essv13129238, essv13129040, essv13128975, essv13129311, essv13128922, essv13129220, essv13129236, essv13129193, essv13129268, essv13129313, essv13129074, essv13129029
SamplesNA19153, NA20509, NA19394, HG02574, NA19701, NA20339, HG03593, HG02658, HG01402, HG03484, HG00143, NA21111, HG03121, HG03378, HG01462, HG03228, NA12286, HG01624, NA19204, NA19399, HG03111, NA19378, HG01602, HG03247, HG03241, HG02231, HG03449, HG02419, HG02798, NA20512, HG03115, HG01806, HG02804, HG02323, HG03298, NA20294, NA19355, NA20298, HG03455, NA18878, HG03229, NA19377, HG03126, HG02215, HG02888, HG02536, HG03069, HG04156, NA20894, NA19446, HG03572, HG03436, NA19379, HG03385, NA19315, HG01167, HG04206, HG02756, HG02860, HG02085, HG03342, HG02645, HG03578, HG02054, HG03978, HG03224, NA20287, HG03040, NA19904, NA19384, NA20291, NA19130, HG02981, NA19923, HG02143, NA19041, HG03520, NA20278, HG00335, NA18868, HG03212, NA19235, NA19207, HG01284, NA19172, HG02588, NA20412, HG03380, HG02427, NA19239, NA20355, HG02623, NA19025, NA20127, HG03585, HG03394, HG00323, HG02716, HG02943, HG02442, NA19908, HG03061, HG02793, NA19403, HG02142, HG01669, HG00360, NA18933, NA19984, NA19184, HG01882, HG01879, NA19043, HG03711, HG02144, HG02887, HG01768, HG01142, HG03900, NA12718, HG03575, HG03081, HG03027, HG03781, HG02878, HG01889, NA18981, NA18907, HG03829, HG03472, HG03301, NA19461, HG03730, HG02429, HG00651, HG02445, HG03802, HG03388, HG02657, NA19750, HG03446, HG02881, HG01101, HG00140, HG01334, HG03969, HG03046, HG02666, NA19452, HG01680, HG04159, HG02635, NA19395, HG04118, HG02896, HG01988, HG01896, HG03934, HG03743, HG03064, HG02660, HG04216, NA19390, NA19147, NA18517, HG03437, NA19712, NA19434, NA18564, NA19019, HG02721, HG03920, NA19331, HG02611, HG02941, NA19428, HG03304, HG03473, HG02464, HG02580, HG02317, NA20281, HG01342, HG03779, HG02558, NA20906, NA18501, HG02694, HG02095, HG03157, HG00381, NA19223, HG03097, HG03066, NA19779, NA19351, NA19468, NA19474, HG03060, NA19185, HG03351, HG02768, NA20786, NA19116, HG00728, NA19900, NA18983, HG02947, HG02763, NA19430, NA19129, HG02851, HG02805, NA19463, HG03303, NA19214, HG03271, HG03514, HG03773, HG02339, HG03559, NA19222, NA11830, HG02610, HG02583, NA21089, NA20877, NA19466, HG01348, NA19914, HG03821, NA19332, HG02702, HG04202, NA19704, HG03057, NA18881, NA18877, HG02891, HG03130, HG02870, HG03280, HG03668, NA19819, HG03190, NA19393, NA12058, HG03297, NA20346, HG00177, HG03139, HG03577, NA19190, NA19098, NA18870, NA19314, HG02895, HG01694, HG03199, HG03095, HG03074, NA19746, HG03464, NA19201, HG02811, HG03099, HG03705, HG03135, HG02541, HG02325, NA19119, NA18982, HG03765, NA18619, HG00330, HG02549, HG02854, NA19197, HG03246, HG03105, HG00346, NA12283, NA18498, HG02505, NA19404, HG01067, NA19383, HG03556, HG03189, NA18874, NA19917, NA19137, HG01281, HG02885, HG03195, NA19471, NA19317, HG02420, NA19159, NA20845, NA19901, NA20884, NA19725, NA19189, NA18520, HG03225, NA18864, NA19209, NA19456, NA19445, NA18908, HG02715, HG02819, HG01524, HG01784, HG02439, NA19247, NA18934, HG04225, HG02513, NA19462, NA19152, HG03291, HG02511, HG02108, NA19236, NA20895, NA18516, NA19982, NA18915, HG01989, HG02307, NA19788, HG02968, HG01880, NA20767, HG02470, HG02976, HG02757, HG03311, HG03563, HG00273, NA19114, NA19774, NA19449, HG03136, NA18499, NA11894, HG03397, HG03078, NA19113, HG02884, HG01182, HG03740, NA20282, HG01705, HG03391, HG02586, HG03109, HG01990, HG02484, NA19035, HG03567, HG02813, HG02255, NA19401, NA19308, HG02613, HG03028, HG02807, NA18909, NA11881, HG03240, HG02799, HG02759, NA12775, HG02682, HG02983, HG00357, HG01915, NA19435, HG02923, NA20351, NA19380, HG03488, HG03127, NA19439, NA20504, NA19310, HG01260, NA19467, HG03108, HG00269, HG00125, HG03084, HG01801, NA20357, HG03432, NA20348, NA19248, HG02974, HG00329, HG02053, HG02462, HG02676, HG03410, HG03894, HG02052, HG03162, HG02861, NA19146, NA18488, HG03072, HG02284, HG01672, NA18522, HG02629, HG03931, HG03118, HG00554, HG03129, HG02006
Known GenesFGL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616505
Frequency
Sample Size2504
Observed Gain0
Observed Loss422
Observed Complex0
Frequencyn/a


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