A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676097



Internal ID9595516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:129979840..129984346hg38UCSC Ensembl
OuterchrX:129979269..129984916hg38UCSC Ensembl
InnerchrX:129113816..129118322hg19UCSC Ensembl
OuterchrX:129113245..129118892hg19UCSC Ensembl
CytobandXq26.1
Allele length
AssemblyAllele length
hg385648
hg195648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6047073, essv5619589, essv5550848, essv6361387, essv6059929, essv6089743, essv6406879, essv6586962, essv6135431, essv5717462, essv5826585, essv5690009, essv5970602, essv5925738, essv6416015, essv6184948, essv6020577, essv5563978, essv6310627, essv6512214, essv6374627, essv6543589, essv5522380, essv5568553, essv6559533, essv6484411, essv6535475, essv6417123, essv6149060, essv6554042, essv6268287, essv6486863, essv5511604, essv5817914, essv5788049, essv6172653, essv5527850, essv6152818, essv6314395, essv5490242, essv5667353, essv6311279, essv5987186, essv6144706, essv6400460, essv6424925, essv5941741, essv6377478, essv6280383, essv6570200, essv6199731, essv5916004, essv5961604, essv5750855, essv5780973, essv6502321, essv5747045, essv6064191, essv6489587, essv6370466, essv6559024, essv6269222, essv5951239, essv5640532, essv6592721, essv6102166, essv5921246, essv5425743, essv5563178, essv6583839, essv5837150, essv6341802, essv6550294, essv5553376, essv5741809, essv5696866, essv5538941, essv6404895, essv5428065, essv5695851, essv5591973, essv5885053, essv5477647, essv5485217, essv6074894, essv6240556, essv5998673, essv5759825, essv6439530, essv5759958, essv6255883, essv5694416, essv5525974, essv5836457, essv5926329, essv5459083, essv5794354, essv6454433, essv6402774, essv6224407, essv5721883, essv5495152, essv6284235, essv6352417, essv6040857, essv6129257, essv6564330, essv5471962, essv5499314, essv6517232, essv5918729, essv6030413, essv5796781, essv5518653, essv6035697, essv5986588, essv5462286, essv5553103, essv6568123, essv5558101, essv6221287, essv5827046, essv5614990, essv5986749, essv5652503, essv5410996, essv6489978, essv5726270, essv6252539, essv5647227, essv5958117, essv5452834, essv5944922, essv5502666, essv5759218, essv6565412, essv5939075, essv5587016, essv6062512, essv6495443, essv5882553, essv5808981, essv6318894, essv6374112, essv6081844, essv6209289, essv6144848, essv6032290, essv6106770, essv5546472, essv6184632, essv5648998, essv5810704, essv6443527, essv6083066, essv5654019, essv5998736, essv5629791, essv6136540, essv5956732, essv5896451, essv5794983, essv6462068, essv5949077, essv6358627, essv5797727, essv6328618, essv6064338, essv6255281, essv5480538, essv6118075, essv5396050, essv6007606, essv5793198, essv5582811, essv5749115, essv5536529, essv5638274, essv6147955, essv5431204, essv6076922, essv5977907, essv5513661, essv5578286, essv5994482, essv6546817, essv6124928, essv6188778, essv6556814, essv5647146, essv6309786, essv5735918, essv6368460, essv6444825, essv6158191, essv6222418, essv6413310, essv5848607, essv6565294, essv6108441, essv6348132, essv6590585, essv6451763, essv5759418, essv6161575, essv5857962, essv6184809, essv6119825, essv6506294, essv6266862, essv6198555, essv5830097, essv5529274, essv6265191, essv5803595, essv6344691, essv6543309, essv6416074, essv5958029, essv5792738, essv5523973, essv6049906, essv6439992, essv6131903, essv6028804, essv5437325, essv5931138, essv5504659, essv5558994, essv5485852, essv5559427, essv6242087, essv6358965, essv6254092, essv6518435, essv5466362, essv6084841, essv6164193, essv5639293, essv6220408, essv5654477, essv5494148, essv6383610, essv6465901, essv6426657, essv6019518, essv6073276, essv6182397, essv6183183, essv6205296, essv6570298, essv6474643, essv5882343, essv5504534, essv5400563, essv6462624, essv6247255, essv6594307, essv5627606, essv5852191, essv5502574, essv6333548, essv6154365, essv5511982, essv5842847, essv6056174, essv6264752, essv6501162, essv6258292, essv6341935, essv6084520, essv5431361, essv5815502, essv6576335, essv5784163, essv5516067, essv5498199, essv6022227, essv5506026, essv5458335, essv6570606, essv6549949, essv6181260, essv5866607, essv6439674, essv6126873, essv5428497, essv5435294, essv5822455, essv5626637, essv5965202, essv5503939, essv6345626, essv6135968, essv6521596, essv5976365, essv6482814, essv6396754, essv6460669, essv5863363, essv6300956, essv5676018, essv6241371, essv6225233, essv6450520, essv6264525, essv6239159, essv5789668, essv5702795, essv6444850, essv6449329, essv5970312, essv6004590, essv5986732, essv6020057, essv5971584, essv5643780, essv6048153, essv6544305, essv5955458, essv5823229, essv6253699, essv5826231, essv5982183, essv6077233, essv5797269, essv6520813, essv5785507, essv5979374, essv6453998, essv5925305, essv6342254, essv5848205, essv5928988, essv6077117, essv5906288, essv6374624, essv6113206, essv6397031, essv5411536, essv5823379, essv5538583, essv6528175, essv6185321, essv5883271, essv5743360, essv6539178, essv6497344, essv5979916, essv5547846, essv5648148, essv6515592, essv5651668, essv6475599, essv5621725, essv5728778, essv6587488, essv6578033, essv6410025, essv6261767, essv6564555, essv5750206, essv5517548, essv5435935, essv5678717, essv5480972, essv6464089, essv6327901, essv5916869, essv6239490, essv5454294, essv6224467, essv5979292, essv5438031, essv5512784, essv6036102, essv5441275, essv6226156, essv5500838, essv5913095, essv6076739, essv6385900, essv6327646, essv6384287, essv6398556, essv5918384, essv6392056, essv6467470, essv6365161, essv6061665, essv5484026, essv6238200, essv5461172, essv6097813, essv6449823, essv6370927, essv6139305, essv6032500, essv5919233, essv6509051, essv6008677, essv6362187, essv5627041, essv5561864, essv6008397, essv5920776, essv5780534, essv5527358, essv6487315, essv6287859, essv5837557, essv5595638, essv6028261, essv6214502, essv5427548, essv5757830, essv6443879, essv6460772, essv5425917, essv5760227, essv6464508, essv5589541, essv6281800, essv6271536, essv6016513, essv5437317, essv5599043, essv6219124, essv6284319, essv6186825, essv6108611, essv5995594, essv6012900, essv6267827, essv5441441, essv6016372, essv5491782, essv6541123, essv5641260, essv6339788, essv6544740, essv5673480, essv6539402, essv5785230, essv6547324, essv5546652, essv6331936, essv5715883, essv5984464, essv5552928, essv6241611, essv6184370, essv6346025, essv5844887, essv5946388, essv6290353, essv5515842, essv6470170, essv6125433, essv5575872, essv6265733, essv6456355, essv5805304, essv5901717, essv6100404, essv6418292, essv5699986, essv6403137, essv6273830, essv6456489, essv6213523, essv6537907, essv5882303, essv6327015, essv6062750, essv5535326, essv5478045, essv6568353, essv6534290, essv5628703, essv6039957, essv5512706, essv5770447, essv6542826, essv6292901, essv5742192, essv5877528, essv6269249, essv5864306, essv5889087, essv6405159, essv5435896, essv5751495, essv6254888, essv6071450, essv5562306, essv6339351, essv5563089, essv6481201, essv5441343, essv5763044, essv5619870, essv5453920, essv6240237, essv6275241, essv6278314, essv6074689, essv5995831, essv5792296, essv5872643, essv5524403, essv5908227, essv5786575, essv6250919, essv6127745, essv5711256, essv6267886, essv5633698, essv5622563, essv5841201, essv6138844, essv5468371, essv5432565, essv5505562, essv6163808, essv5997540, essv5958260, essv6152303, essv5807466, essv5869209, essv6254844, essv6297201, essv5552736, essv6112752, essv5852776, essv6419006, essv5681377, essv6198041
SamplesNA18621, HG00142, NA19664, NA12414, HG00257, HG00151, HG00233, NA12751, NA18504, NA19684, NA19377, NA18530, HG01461, NA19920, NA18633, NA12750, NA12813, NA19446, HG00138, NA19171, HG01350, NA19379, HG00122, NA19678, HG01167, NA18558, HG01492, NA18618, NA18574, NA07048, HG01083, HG01365, NA19384, HG00243, NA20291, HG00158, HG00139, NA19720, NA18868, NA19172, NA19985, NA18867, HG01550, NA19789, NA19921, HG00137, NA12777, NA18605, NA12489, HG00731, NA18538, HG01095, NA19717, NA19663, NA12718, NA18572, NA18548, NA18907, HG01047, HG01102, NA12829, NA11893, NA19750, NA19453, NA18532, NA06989, HG01334, NA19452, NA19682, NA18523, NA19318, NA19395, HG00126, NA19625, HG01107, NA19729, NA19652, NA19440, NA19256, NA19712, NA19434, NA18628, NA19444, NA19331, HG01174, NA19470, NA19428, HG00116, NA20281, NA19360, NA12763, NA18615, HG01342, NA12347, NA19328, NA19785, NA18631, NA19223, NA19779, NA18609, NA19102, HG00112, NA19129, NA18624, NA18612, NA19429, NA18487, HG01437, NA19431, NA18577, NA11832, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, NA19397, NA19466, HG01359, HG01052, HG01079, HG00100, NA18561, NA19704, NA18507, HG01188, NA11933, NA18599, HG01389, HG01374, NA18603, NA12045, NA19819, NA12058, NA20346, HG00150, NA19190, NA19098, NA12400, NA12413, NA12341, HG01250, NA19660, HG00251, NA19728, NA18595, NA19723, NA18635, NA19916, NA19131, HG00736, HG01354, NA19313, NA12287, HG00247, NA18498, NA19681, NA20336, HG01134, NA12282, NA19651, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, NA20340, NA19371, NA18560, NA18617, NA19471, HG01176, NA12889, NA19159, NA19725, NA19189, NA18520, HG00637, NA12828, NA18908, NA19451, NA18638, NA12748, HG00108, HG01136, HG00149, NA19247, NA18613, NA19657, HG01360, NA19707, HG01384, NA12342, NA19462, NA19347, NA19391, NA19327, NA19982, NA19788, NA18910, NA19776, NA19655, HG01197, HG01383, HG01182, NA18853, NA20282, NA19756, HG00141, NA19160, NA18536, NA19685, NA19401, HG00119, NA11881, NA19834, NA19108, NA18543, NA18559, NA12775, NA19749, NA19732, HG01253, HG00136, HG00638, NA07051, NA19786, HG01108, HG00256, HG00125, NA20341, NA19818, NA19759, NA19376, NA19248, NA19438, NA19472, NA12749, NA19713, NA12830, NA19726, HG00252, HG01377, NA07056, HG01097, NA18549, HG01191, NA19153, NA19394, NA12383, NA19701, NA12717, HG01173, NA12842, HG00143, NA19703, HG01462, NA12286, HG00242, NA19204, NA10851, NA12273, NA18565, HG01066, HG00244, NA19350, NA19359, NA19355, NA12340, NA20332, HG00737, HG00115, NA18616, NA19443, HG01051, NA20356, HG00261, NA18510, NA12399, NA18602, NA18627, NA19107, NA07346, NA18563, HG00641, NA19373, NA18519, NA19319, NA18597, HG01351, HG01168, NA18923, NA18567, NA07347, NA19457, NA19904, NA19130, NA11930, NA12275, HG01069, HG01080, NA20278, HG00148, NA12156, HG00156, NA11932, HG00232, NA19372, NA11994, NA19235, NA19207, NA19722, HG00160, HG00118, HG01198, NA18557, HG01048, NA20342, HG00253, NA18539, HG01124, HG00154, NA19908, HG01171, NA19403, HG00245, HG00732, NA19455, NA20314, HG00263, NA18871, HG01149, NA18534, HG00239, HG00740, NA19654, NA19461, NA11919, HG00250, NA18626, HG01101, HG00140, NA18553, HG01497, NA19761, NA18555, HG00152, HG00146, NA12144, NA19469, HG00246, NA12546, NA18541, HG01075, NA12043, HG01148, NA19375, HG00258, NA18632, HG00155, HG00254, NA19390, HG00265, NA20276, NA19747, NA12272, HG01551, HG00734, HG01357, HG01375, NA19835, HG00237, NA19679, NA19324, NA19311, HG01113, HG01137, NA19783, NA18610, HG01489, NA18501, NA06994, HG00259, NA19716, NA19468, NA19474, NA18636, NA20289, NA11843, NA19116, NA19780, NA19711, NA19900, NA19430, NA19316, NA19312, HG01125, NA12890, NA12006, NA19463, NA18623, NA12154, NA19346, HG00553, NA19676, NA18620, NA11830, HG01098, HG01356, HG00231, HG00249, NA11829, NA19914, NA19332, NA18917, HG00640, NA18486, HG01465, HG00103, NA18545, NA19393, NA19777, NA18596, HG01456, NA18606, NA18870, NA12155, NA07357, HG01140, NA19374, NA19396, NA19381, HG01366, HG01070, NA19382, NA19762, NA19448, HG01488, NA19119, NA19198, NA20317, NA18619, NA11992, NA19771, NA19138, NA19782, NA18611, NA19404, HG01455, HG01067, NA19383, NA18874, NA06984, NA19917, HG01072, NA19385, NA19317, HG01440, NA19901, HG00159, NA19456, NA19445, NA19200, HG00264, NA11993, HG00260, NA18614, NA11831, NA10847, HG01353, HG00133, HG01183, NA18544, NA19437, HG01187, NA18934, NA12003, NA19152, NA19236, NA18516, NA18637, NA20126, NA18630, HG01390, HG01073, NA19774, NA19449, NA18856, NA12249, HG00117, HG00157, NA12827, NA19338, NA19257, NA18634, NA19675, HG01204, NA19436, NA18546, NA18608, HG00124, NA12716, HG01190, NA19321, NA19473, NA19435, NA19773, NA19380, NA19144, NA19334, HG01494, NA19439, NA19467, NA06986, NA19398, HG00111, NA20348, HG01491, NA20334, HG01254, HG01055, HG00123, HG00131, NA19213, NA19661, HG01378, NA19755, HG01082, NA19758, NA07000, NA18522, HG01112, HG00554, NA18622, HG01061, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676097
Frequency
Sample Size1151
Observed Gain0
Observed Loss538
Observed Complex0
Frequencyn/a


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