A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3588657



Internal ID6628948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206641312..206642359hg38UCSC Ensembl
Innerchr1:206641312..206642359hg38UCSC Ensembl
Outerchr1:206640981..206642726hg38UCSC Ensembl
chr1:206814657..206815704hg19UCSC Ensembl
Innerchr1:206814657..206815704hg19UCSC Ensembl
Outerchr1:206814326..206816071hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg381048
hg191048
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10274239, essv10274404, essv10274127, essv10274121, essv10274342, essv10274339, essv10274290, essv10274337, essv10274328, essv10274112, essv10274141, essv10274302, essv10274162, essv10274345, essv10274176, essv10274168, essv10274200, essv10274282, essv10274128, essv10274187, essv10274132, essv10274306, essv10274247, essv10274270, essv10274119, essv10274400, essv10274259, essv10274394, essv10274395, essv10274220, essv10274196, essv10274273, essv10274235, essv10274131, essv10274227, essv10274384, essv10274195, essv10274264, essv10274267, essv10274313, essv10274291, essv10274397, essv10274380, essv10274309, essv10274278, essv10274343, essv10274298, essv10274149, essv10274398, essv10274376, essv10274334, essv10274170, essv10274375, essv10274316, essv10274348, essv10274392, essv10274100, essv10274248, essv10274123, essv10274133, essv10274179, essv10274089, essv10274321, essv10274258, essv10274325, essv10274374, essv10274406, essv10274323, essv10274144, essv10274377, essv10274237, essv10274344, essv10274378, essv10274385, essv10274260, essv10274382, essv10274347, essv10274292, essv10274256, essv10274254, essv10274225, essv10274401, essv10274318, essv10274205, essv10274312, essv10274303, essv10274161, essv10274156, essv10274301, essv10274136, essv10274369, essv10274295, essv10274163, essv10274281, essv10274155, essv10274192, essv10274372, essv10274217, essv10274088, essv10274393, essv10274243, essv10274223, essv10274331, essv10274412, essv10274184, essv10274403, essv10274194, essv10274182, essv10274174, essv10274388, essv10274115, essv10274191, essv10274285, essv10274129, essv10274396, essv10274263, essv10274212, essv10274336, essv10274305, essv10274284, essv10274231, essv10274164, essv10274101, essv10274120, essv10274340, essv10274361, essv10274152, essv10274166, essv10274202, essv10274148, essv10274407, essv10274098, essv10274367, essv10274113, essv10274289, essv10274160, essv10274356, essv10274114, essv10274300, essv10274117, essv10274241, essv10274366, essv10274276, essv10274236, essv10274234, essv10274109, essv10274330, essv10274165, essv10274346, essv10274275, essv10274093, essv10274308, essv10274118, essv10274204, essv10274201, essv10274379, essv10274286, essv10274153, essv10274107, essv10274253, essv10274150, essv10274327, essv10274350, essv10274287, essv10274124, essv10274154, essv10274211, essv10274096, essv10274268, essv10274233, essv10274279, essv10274368, essv10274363, essv10274218, essv10274140, essv10274143, essv10274199, essv10274232, essv10274134, essv10274311, essv10274387, essv10274381, essv10274244, essv10274230, essv10274110, essv10274104, essv10274157, essv10274271, essv10274147, essv10274222, essv10274255, essv10274358, essv10274405, essv10274209, essv10274111, essv10274310, essv10274240, essv10274097, essv10274304, essv10274221, essv10274106, essv10274193, essv10274322, essv10274293, essv10274245, essv10274102, essv10274354, essv10274411, essv10274402, essv10274335, essv10274188, essv10274135, essv10274094, essv10274359, essv10274277, essv10274409, essv10274208, essv10274146, essv10274138, essv10274391, essv10274360, essv10274189, essv10274357, essv10274338, essv10274158, essv10274095, essv10274103, essv10274389, essv10274351, essv10274203, essv10274185, essv10274181, essv10274125, essv10274390, essv10274183, essv10274352, essv10274151, essv10274307, essv10274246, essv10274139, essv10274353, essv10274386, essv10274198, essv10274362, essv10274116, essv10274122, essv10274178, essv10274319, essv10274180, essv10274207, essv10274206, essv10274090, essv10274213, essv10274365, essv10274297, essv10274224, essv10274167, essv10274296, essv10274265, essv10274410, essv10274294, essv10274177, essv10274216, essv10274355, essv10274186, essv10274315, essv10274210, essv10274373, essv10274172, essv10274399, essv10274332, essv10274215, essv10274169, essv10274251, essv10274257, essv10274171, essv10274280, essv10274324, essv10274238, essv10274288, essv10274130, essv10274329, essv10274219, essv10274283, essv10274137, essv10274326, essv10274105, essv10274228, essv10274126, essv10274371, essv10274092, essv10274173, essv10274145, essv10274320, essv10274190, essv10274226, essv10274175, essv10274142, essv10274333, essv10274108, essv10274266, essv10274314, essv10274383, essv10274242, essv10274261, essv10274414, essv10274091, essv10274364, essv10274099, essv10274250, essv10274274, essv10274262, essv10274413, essv10274341, essv10274408, essv10274349, essv10274299, essv10274214, essv10274252, essv10274197, essv10274317, essv10274229, essv10274370, essv10274272, essv10274269, essv10274249, essv10274159
SamplesHG01986, NA18502, HG00542, NA19058, HG02496, HG03484, HG03121, HG01965, HG00608, HG02385, HG01443, NA19664, NA19066, NA19399, NA18565, HG02029, HG03300, HG01806, HG02323, NA20298, HG01802, HG03295, NA20332, NA19377, NA18530, HG00449, HG02356, NA20356, NA20359, NA19067, NA18602, HG03478, HG03009, NA19379, HG02621, HG00589, NA19319, HG03385, NA19315, NA18597, HG03754, NA20320, HG03091, HG00238, NA18993, NA18618, HG02860, HG02085, NA18574, NA20822, NA18582, NA19457, NA18571, HG01063, HG03224, NA19130, NA19079, NA18949, HG02143, HG00632, HG00534, NA18748, HG02642, HG02588, HG02190, NA20412, HG03380, HG02545, HG01121, HG03394, NA18867, HG02409, HG01851, HG02134, HG02943, NA18747, NA18538, HG00268, HG01435, NA19070, HG03061, HG03511, HG02345, HG00557, HG03088, NA18933, HG01882, NA19717, HG03457, HG04177, NA19064, HG03301, NA18573, HG00651, NA19084, NA18626, HG02121, NA18912, HG02141, NA18532, HG02881, NA18555, HG03046, HG03672, HG02286, HG02332, NA18531, NA12778, HG00864, HG02722, NA18953, HG03720, HG00407, HG00611, NA18632, NA18533, HG01597, NA19149, HG01980, NA19747, NA19019, HG02308, HG00580, NA19010, NA20790, NA20362, NA19835, HG02274, NA19324, HG01620, HG03473, NA18943, NA20281, HG01489, HG01342, HG02558, HG03703, HG02371, HG02133, HG01861, HG00513, HG00478, HG01868, HG01846, HG01302, HG03060, HG02013, HG02182, HG00728, HG02774, HG00595, HG02947, HG01431, NA18957, NA18989, NA18623, NA19065, HG01927, HG01805, HG00593, NA18997, HG04198, HG00403, NA18998, HG00881, HG02339, HG03559, HG01441, HG00592, HG01098, HG02250, HG03731, NA18592, HG03163, HG01348, NA19332, HG02433, HG02262, NA18561, NA19704, HG02852, NA18603, NA20321, NA19092, HG02870, HG00699, HG03190, HG01944, NA18526, NA19314, HG04001, HG03950, NA18967, NA19068, HG03082, HG03464, HG02811, HG03099, HG03499, HG01853, HG00689, HG00448, NA19119, HG00458, NA19131, NA19023, NA19138, HG00590, NA18749, NA19651, HG02703, HG01398, HG02315, HG00683, HG03268, HG02573, NA19075, NA19385, HG01892, NA19087, HG01440, HG03352, HG02946, HG03750, NA18864, NA18954, NA18648, HG00464, NA19007, NA18614, HG02977, HG02166, NA18613, HG00629, HG02136, HG01841, HG00982, HG00596, HG02513, HG00428, NA19347, HG02397, HG02076, HG00475, NA19236, HG04162, NA20895, NA18516, HG00436, HG02953, HG01989, HG02307, HG04035, HG01808, NA18630, HG03124, HG01092, HG03123, HG03871, HG03824, HG04054, HG02817, HG03397, NA19001, HG03740, HG03625, HG00613, NA18536, NA18634, HG01596, HG00445, NA18945, NA18546, NA20296, NA19308, NA18978, HG01444, HG00476, NA19206, NA18542, HG02807, NA18543, HG02759, NA19735, HG02501, HG02049, NA19473, NA18950, HG01253, HG01598, HG01951, HG01494, HG01974, HG01933, HG02139, HG02181, HG03084, NA20357, NA19818, NA19143, HG03565, HG00446, HG01917, HG00409, NA21088, NA19060, HG00421, HG03863, HG02032, HG00656, HG02676, HG02410, HG02679, HG00698, HG02052, HG03445, HG01377, NA19146, NA18488, HG02425, HG02284, HG01886, HG02808, NA18622, HG00437, NA19153, HG02060
Known GenesDYRK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3588657
Frequency
Sample Size2504
Observed Gain0
Observed Loss327
Observed Complex0
Frequencyn/a


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