A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666889



Internal ID9586308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:137879158..137882742hg38UCSC Ensembl
chr9:140773610..140777194hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg383585
hg193585
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6305454, essv6569330, essv5897098, essv5436742, essv6391534, essv5857153, essv6028713, essv5647642, essv6138816, essv6523104, essv6078770, essv5866707, essv5937449, essv5755688, essv6013294, essv5653967, essv5478610, essv6418587, essv6075603, essv5933396, essv6472936, essv5435719, essv6496969, essv6113295, essv5697581, essv5961850, essv5903263, essv6534660, essv5979416, essv5920674, essv5704279, essv6224349, essv5616064, essv6567935, essv6460728, essv5479284, essv5472449, essv5416889, essv6561808, essv6448968, essv5990639, essv5792966, essv5496015, essv6497611, essv6489214, essv5697486, essv6407452, essv6259963, essv6396277, essv6427988, essv6499499, essv6011039, essv5707395, essv5562115, essv6469123, essv5874109, essv6104298, essv5939014, essv6003086, essv6010891, essv5580460, essv6171764, essv5733123, essv5405300, essv5704227, essv6136608, essv5632915, essv5614620, essv5771229, essv6469593, essv5882268, essv5528023, essv5946962, essv6257731, essv6204482, essv5500258, essv5421652, essv6211794, essv6566793, essv6275591, essv5409233, essv5469288, essv5468862, essv6499442, essv5513324, essv6465755, essv5619720, essv6152557, essv5643748, essv5830217, essv6442269, essv6437039, essv5915237, essv6432228, essv5579450, essv5690313, essv6532661, essv5898146, essv6386679, essv6241578, essv5461384, essv5673009, essv5784287, essv6596273, essv5899358, essv6438546, essv5637749, essv6026555, essv6165626, essv5682515, essv5959911, essv6108757, essv5939372, essv5473279, essv5668713, essv5514343, essv5543596, essv6188148, essv6015950, essv5530800, essv6595668, essv6501080, essv6182845, essv6546812, essv5610779, essv5913626, essv5838447, essv5746114, essv6267871, essv5397111, essv6347903, essv6465312, essv6451893, essv6398048, essv6121676, essv5423311, essv5643394, essv5413448, essv6079564, essv5783629, essv5622965, essv6509972, essv5921821, essv5404238, essv5978561, essv5735417, essv5923298, essv5773264, essv5476702, essv5627274, essv5506710, essv6155140, essv6481228, essv6546490, essv6044982, essv5852050, essv5694119, essv5602033, essv5951184, essv6287286, essv5784472, essv5874767, essv5644023, essv6382494, essv6373587, essv6233444, essv5968076, essv6531536, essv6103471, essv6086245, essv5509465, essv6493149, essv5835171, essv5622026, essv5842553, essv6398250, essv5948035, essv5810063, essv6591245, essv6377592, essv6195923, essv5400767, essv6099414, essv5518952, essv6323915, essv5867226, essv5602694, essv6260833, essv5966978, essv6188942, essv6069630, essv5930620, essv6276626, essv6214567, essv6488678, essv6082345, essv5933092, essv6400022, essv6532195, essv5852140, essv6154114, essv5694883, essv5860947, essv6531749, essv6068229, essv5706075, essv6436380, essv5949844, essv5810437, essv6138515, essv5444573, essv6502177, essv5739895, essv6119357, essv5734176, essv5494444, essv6554161, essv6154733, essv5717115, essv6303517, essv5742610, essv6305431, essv5707121, essv5479942, essv6256477, essv6457817, essv5469354, essv5420321, essv5897723, essv6042346, essv6320621, essv5631454, essv5523114, essv6592859, essv5970762, essv6389762, essv6360318, essv6500587, essv6126828, essv5936327, essv5793379, essv6130639, essv5924812, essv6137728, essv6075029, essv5529338, essv6300202, essv6212225, essv5805014, essv5776639, essv6589188, essv6057226, essv6444174, essv5570015, essv5575702, essv5978194, essv5860521, essv5634610, essv5534973, essv6544234, essv5659316, essv5735036, essv5724965, essv5700019, essv6564036, essv5548926, essv6427107, essv6562432, essv5662021, essv5458286, essv6264023, essv6037424, essv6474400, essv6314135, essv6186048, essv5738377, essv5750713, essv5965471, essv5859324, essv6453909, essv6150479, essv5761762, essv5461287, essv6489519, essv6347200, essv6109984, essv5605539, essv6152582, essv6141931, essv5970290, essv5476160, essv6307776, essv5808102, essv5431757, essv6179708, essv6099831, essv5649767, essv5736969, essv5649466, essv6403485, essv5921826, essv6221132, essv5828706, essv5712602, essv5931005, essv6470496, essv5737707, essv6361985, essv6543460, essv5990286, essv5667525, essv5752838, essv6521508, essv6086607, essv6228395, essv6048993, essv6349309, essv5824374, essv5731902, essv6021333, essv5632697, essv5483113, essv5673297, essv5562375, essv5950706, essv5583064, essv5639650, essv6223364, essv5575608, essv6315244, essv6313427, essv5437124, essv6505825, essv5773223, essv5853759, essv6511978, essv6110027, essv6377830, essv5959391, essv5650506, essv6180873, essv6168176, essv5924919, essv6344913, essv6074925, essv5764745, essv5489967, essv5477945, essv6192286, essv6061219, essv6295421, essv5557706, essv5406076, essv6368885, essv6082712, essv6480479, essv6476113, essv5890437, essv5853842, essv6508195, essv5842370, essv5543730, essv5654255, essv5889660, essv5771388, essv6136578, essv6338565, essv6246886, essv6486297, essv6364274, essv5747916, essv5832103, essv5781848, essv6412998, essv6342796, essv5574386, essv5804654, essv5633736, essv6262507, essv6195521, essv5598827, essv6024512, essv5635041, essv6593326, essv5806685, essv6225631, essv5852615, essv5761611, essv5662658, essv6035233, essv6336090, essv5861962, essv6370495, essv6133152, essv5788828, essv6055958, essv5990001, essv6076681, essv5502600, essv6306418, essv5603283, essv6503476, essv5571640, essv5792967, essv5472623, essv6214737, essv5947329, essv5740026, essv6491681, essv6147996, essv5966392, essv5421942, essv6438555, essv6081195, essv5585144, essv5579727, essv6280020, essv5662258, essv5725043, essv5445072, essv6145866, essv6399249, essv6203711, essv5829113
SamplesNA19394, NA12383, NA18502, NA20761, NA12717, NA20529, NA12842, NA19909, HG00142, NA20766, NA12286, NA20508, NA19066, NA18861, NA18508, NA10851, HG00559, NA19399, NA20783, NA18565, NA20514, NA11931, HG00315, NA20816, NA18999, HG00233, NA20802, NA19350, NA19359, NA20294, NA19355, NA20332, NA19377, NA18959, NA18616, NA19443, NA20356, NA18510, NA12750, NA20806, NA19067, HG01522, HG00693, NA19107, HG00663, NA20814, NA07346, HG00138, NA19373, NA19379, NA18940, NA19315, NA20798, HG01177, NA20756, NA20795, NA18558, HG01492, NA19062, NA18916, NA18574, NA11918, NA07347, NA18582, NA20768, NA19904, NA19384, NA18949, NA11930, HG00139, NA20759, NA12275, NA20278, HG00148, NA20775, NA20812, NA18868, NA11932, NA19238, NA11994, NA19172, HG00160, NA19239, HG01048, NA20757, NA19985, NA18867, NA20515, NA20755, NA20753, NA12777, NA20535, NA19908, NA19670, NA12878, NA18933, HG00732, NA20521, NA20760, NA19455, NA18579, NA12718, NA20519, NA18871, NA18572, NA18948, NA18534, HG00551, NA19064, NA18907, HG01047, NA20525, NA19654, NA18573, NA19461, NA19084, NA20581, NA12829, NA11893, NA19453, NA18912, HG01101, NA18553, NA19099, NA19059, NA19009, HG00146, NA18963, NA12144, NA18523, NA12778, NA19395, NA18570, NA19625, NA18858, NA12546, NA18541, NA12043, NA20799, NA19729, HG00155, NA19440, NA18533, NA19390, NA19256, NA19147, NA18517, NA19712, NA18564, NA19747, NA18628, NA20815, NA19072, HG00734, NA19444, NA19010, NA20790, NA20530, NA20527, NA20792, NA20778, NA19679, NA19428, HG01113, HG01137, NA19083, NA19783, NA12763, NA18610, NA12347, NA19328, NA18501, NA19785, NA18631, NA19779, HG00267, NA19093, NA20289, NA18609, NA20786, NA18873, NA19770, NA20758, NA19116, NA20826, NA19780, NA19900, NA20502, NA19129, NA19316, NA19312, NA12890, NA12006, NA19463, NA19063, NA12154, NA19065, NA20754, NA19346, NA19074, NA18487, HG00553, NA18577, NA20772, NA18620, HG01516, HG00626, NA19648, NA11830, HG01098, HG01356, NA20543, NA19055, NA19397, NA18924, NA11829, HG00361, NA18592, NA19332, NA18507, NA11933, HG00306, NA20813, NA20532, NA18917, NA18603, NA19092, NA18486, HG01465, NA18545, NA19393, NA20805, NA19777, NA19057, NA18596, NA12058, NA20808, NA20507, NA19190, NA18870, NA18526, NA12400, NA07357, NA12413, NA20537, NA19068, HG01250, NA19396, NA19381, NA20796, NA19005, NA18550, NA19382, NA18489, HG00448, NA18982, NA19198, NA18619, NA12891, NA12348, NA18942, NA12283, NA20540, NA19088, NA12287, NA19138, NA18498, NA20513, NA19782, NA20336, NA18964, NA12761, NA12282, HG01455, NA19651, NA19383, NA18874, NA06984, NA18977, HG00262, NA20340, NA19731, NA19075, NA18986, NA19087, NA12889, NA19002, NA20811, NA19901, NA19189, NA12828, NA20533, NA18973, NA19451, HG00739, HG00264, NA12748, NA11831, HG01353, HG00313, HG00133, HG01136, NA18544, NA19247, HG00183, NA19082, NA19707, NA20787, NA18934, HG00145, NA20524, HG01384, NA12342, NA20505, NA19347, NA20809, HG00577, NA18956, NA20536, NA19391, NA18516, HG00533, HG00500, NA19788, NA19658, NA18910, NA20770, NA20344, NA19776, NA18566, HG01073, NA19449, NA19655, HG00373, NA18499, NA11894, NA20538, NA18856, NA12249, HG01383, NA12892, HG00117, HG00613, HG00157, NA12827, NA19338, NA19257, NA19225, NA20828, NA19756, NA18536, NA20542, NA20534, NA18945, NA20765, NA20526, NA18608, NA19401, NA20773, NA20522, NA18542, NA18909, HG01190, NA19834, NA19108, NA18543, NA19749, HG00366, NA18950, NA19732, HG00638, NA20804, NA19240, NA19773, NA19380, NA07051, NA20785, NA12046, HG00308, HG01494, NA19439, NA20504, NA19786, NA19467, NA20803, NA07037, NA19085, NA06986, NA20341, NA19818, NA19759, NA19376, NA19398, NA19078, NA20348, NA19248, HG00312, NA20582, NA19060, HG00329, NA18987, HG00123, NA12830, NA20807, HG00131, NA19726, NA19213, NA18552, HG01377, NA18984, HG00472, NA07056, NA18505, HG01378, NA19004, NA18488, NA20322, NA18511, HG01112, HG01097, HG00554, NA18549, NA18562, NA18965
Known GenesCACNA1B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666889
Frequency
Sample Size1151
Observed Gain0
Observed Loss424
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer