A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672177



Internal ID9591596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:168055321..168056494hg38UCSC Ensembl
chr1:168024559..168025732hg19UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg381174
hg191174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6415696, essv6154483, essv5901863, essv6319410, essv5637901, essv6447755, essv5916489, essv6176346, essv6022536, essv6116164, essv5702507, essv5967793, essv5989805, essv5976991, essv5446350, essv5631340, essv5852744, essv6135442, essv6144710, essv5631861, essv6416432, essv5777868, essv6106299, essv5722050, essv5608183, essv6025941, essv5665356, essv6415947, essv5591240, essv6581170, essv6536109, essv5703322, essv6130337, essv6054290, essv5767127, essv5660038, essv6571569, essv5712545, essv6053066, essv6195466, essv6371277, essv5563485, essv5957141, essv6072247, essv5813895, essv5438958, essv6140708, essv5553958, essv6143674, essv5695213, essv5987572, essv6589821, essv5930153, essv5629454, essv6422792, essv5660499, essv5853411, essv5612066, essv5752410, essv6365847, essv6223158, essv6535534, essv6297367, essv6515779, essv5961706, essv6577400, essv5977436, essv5605621, essv6056693, essv5605294, essv6342015, essv6057572, essv6231786, essv5740055, essv6594341, essv6110370, essv5604687, essv5863098, essv6111434, essv6201599, essv5838765, essv6107214, essv5454093, essv5581348, essv5481009, essv6305405, essv5921238, essv5905098, essv6194571, essv5558095, essv5921706, essv6173567, essv6582682, essv5516816, essv5784006, essv5752908, essv6179610, essv5475912, essv5541288, essv5448662, essv5922637, essv6120356, essv6079830, essv6249817, essv5720087, essv5711809, essv6228131, essv5772038, essv5418871, essv5570794, essv5447046, essv5756827, essv6508230, essv6132434, essv6288212, essv5883728, essv6324386, essv6062352, essv6495693, essv5611423, essv5481460, essv6316553, essv5738527, essv5688672, essv6249784, essv6123245, essv5468892, essv5403685, essv6051618, essv5861049, essv6456609, essv6268252, essv6406491, essv5631633, essv5519076, essv6306430, essv5469662, essv6305510, essv5859824, essv5672075, essv5970768, essv6482599, essv5829185, essv6135574, essv5598586, essv6256867, essv6122638, essv5625811, essv6208981, essv5629504, essv5980736, essv5640871, essv6075286, essv5977423, essv6585471, essv6039507, essv6413944, essv6067957, essv5855611, essv5812869, essv5581541, essv5690695, essv5778413, essv5420082, essv6010421, essv5816605, essv5531506, essv6542466, essv5733407, essv6448635, essv5674918, essv5690578, essv5485629, essv5705431, essv6498427, essv5783433, essv6586873, essv6548873, essv6324015, essv5412882, essv5666436, essv6270306, essv6166352, essv6467061, essv6327873, essv5629107, essv5907462, essv5856753, essv5609181, essv6248046, essv5703580, essv6132657, essv5795053, essv6058496, essv6209981, essv6130066, essv6252409, essv5658230, essv6491294, essv6274987, essv6512496, essv6133331, essv6284984, essv6335860, essv6229170, essv6240414, essv5805866, essv5559839, essv6446525, essv5421417, essv6410541, essv5652716, essv6244785, essv5444785, essv6532047, essv5505180, essv5420693, essv5849630, essv5692446, essv6275205, essv6223095, essv5504523, essv6306663, essv5807521, essv6568730, essv6175562, essv5849538, essv5591516, essv6101974, essv5972245, essv5902028, essv5396597, essv5865995, essv6479753, essv6278612, essv6435785, essv6388490, essv5878190, essv5511526, essv5878003, essv5962689, essv5831253, essv5789385, essv6578111, essv5582564, essv6223289, essv5515859, essv6231856, essv5847782, essv5734613, essv6244511, essv5508262, essv5546374, essv6463694, essv6158669, essv6491574, essv6511653, essv6385256, essv6093689, essv6553206, essv5826690, essv5565891, essv5697434, essv6059143, essv5565751, essv6398851, essv5912947, essv5755677, essv5680353, essv6291698, essv5914714, essv6028827, essv6111869, essv6016402, essv5906698, essv5719727, essv5497956, essv6544348, essv6484552, essv5474084, essv5989397, essv5888636, essv5699500, essv5794826, essv5667362, essv6048505, essv5736090, essv5447756, essv6032156, essv6428653, essv6337251, essv6167422, essv6105674, essv5556180, essv5413281, essv5996524, essv5523674, essv5674333, essv5846336, essv6418538, essv6470289, essv5593118, essv5570536, essv6376830, essv5660141, essv5475421, essv6524245, essv6451504, essv5683177, essv5912336, essv6306892, essv5638827, essv6399510, essv6592596, essv6248628, essv5548630, essv5734122, essv5465220, essv6448848, essv6354781, essv5715539, essv5724274, essv5909963, essv5539716, essv5736232, essv5896496, essv6019835, essv5586476, essv5821942, essv6095044, essv6259681, essv5991139, essv5978771, essv6089422, essv5765948, essv5500631, essv5432534, essv6488412, essv6259353, essv5726769, essv6527166, essv6441853, essv5911816, essv5738914, essv5613428, essv5647069, essv6145433, essv6250371, essv6109037, essv6180548, essv6515652, essv6406584, essv5966478, essv5761350, essv5655737, essv5992983, essv5914384, essv6140078, essv5561039, essv6556121, essv6072832, essv5835376, essv6371180, essv6132510, essv5665427, essv6018265, essv6005651, essv5769413, essv6056334, essv5711610, essv5551399, essv6315146, essv5676627, essv5540956, essv6119297, essv5427002, essv5538481, essv6043955, essv6302329, essv5641024, essv5627220, essv6470925, essv6258804, essv5461782, essv6320019, essv5468605, essv6309258, essv6167795, essv5579374, essv5522495, essv6285205, essv5405586, essv5758666, essv5854117, essv6160140, essv5408584, essv5749438, essv5756237, essv6425512, essv5714259, essv5762783, essv6328445, essv5956881, essv5424231, essv6514040, essv6091327, essv5835873, essv5538752, essv6110695, essv6142417, essv6092913, essv6398332, essv6347917, essv6300833, essv6344949, essv6042510, essv6038510, essv6139517, essv5810217, essv6014432, essv6336734, essv6043339, essv5655172, essv6150221, essv5432239, essv6090956, essv5745986, essv5628501, essv6469705, essv5631564, essv6506397, essv5660291, essv6364546, essv6057891, essv5904033, essv5887453, essv5948363, essv6065635, essv6088539, essv6115938, essv5853470, essv6430085, essv6211200, essv6581059, essv6463018, essv6165390, essv6177996, essv5999610, essv6250709, essv5873360, essv6439845, essv5571518, essv5774591, essv5496111, essv6071082, essv6570991, essv6379684, essv5987992, essv6577003, essv6211844, essv5741845, essv6425975, essv5697584, essv5615096, essv6455400, essv5510467, essv5937061, essv6113621, essv6182396, essv6356248, essv5901248, essv5754477, essv6153033, essv6344011, essv5899323, essv6370889, essv6282085, essv5524802, essv5736994, essv5915151, essv5957889, essv6321577, essv6291974, essv5746853, essv5588879, essv5993383, essv5626383, essv5604449, essv5840364, essv6525470, essv5541694, essv5457643, essv6090053, essv6553220, essv5667238, essv5613603, essv5571111, essv5552412, essv5550283, essv6130815, essv5746734, essv5791043, essv6401901, essv5567478, essv5541274, essv6042009, essv5891388, essv5696773, essv6133002, essv5826796, essv6157130, essv6444387, essv6174528, essv5883749, essv6553731, essv6089585, essv6271239, essv6236421, essv5673040, essv5837607, essv5500569, essv6218318, essv5684662, essv5703735, essv5504645, essv5422234, essv6162210, essv6326218
SamplesNA20588, NA18502, HG00189, HG00650, NA20529, HG00142, NA19399, NA12843, NA11920, HG00257, NA18999, NA12751, NA18504, NA19684, NA19377, NA18530, NA19920, NA18633, NA19067, HG00337, NA19446, NA19171, HG01350, NA19379, HG00122, NA19678, NA18558, NA18547, HG01492, NA18960, NA18618, NA18916, NA11918, HG01083, HG01365, NA19384, HG00537, HG00311, NA19079, HG00158, HG00139, NA19720, HG00335, NA18868, NA19238, NA19172, NA19239, HG00326, HG00323, NA18867, NA20515, NA19789, NA20755, NA19921, HG00137, NA20800, NA18538, HG00266, NA19070, NA19056, NA12878, HG01095, NA20810, NA19717, NA19663, HG00344, NA19081, NA20519, NA18572, NA18948, NA18981, NA18907, HG01102, HG00690, HG00404, HG00331, NA19453, NA19059, HG01334, NA19452, NA19682, NA18523, NA19318, NA12778, NA19395, HG00126, NA19625, HG01107, NA19729, HG00611, NA19440, HG00336, NA18517, NA19712, NA19434, NA18564, NA19444, NA19331, NA20520, HG01174, NA19360, NA12347, NA19779, NA18609, NA19102, NA18873, HG00112, NA20826, HG00377, NA19129, NA18624, NA19065, NA18612, NA19429, NA18487, NA19431, NA18577, HG00626, HG01060, NA19700, HG00592, NA19055, NA19397, NA19466, NA11995, HG01359, HG01052, NA18980, HG00100, NA19704, NA18507, NA11933, NA18599, HG01389, HG01374, HG00306, NA12045, NA19092, NA19819, NA12004, NA12058, NA20346, HG00150, NA20507, NA19190, NA19098, NA12341, NA19746, NA19660, NA18550, HG00251, NA18489, NA19728, NA18595, NA19723, NA19916, HG00330, HG00634, NA19131, HG00736, HG00610, HG01354, NA20540, NA19313, NA12287, NA19054, NA18498, NA19681, NA20336, HG01110, NA20541, NA12761, NA12282, HG00277, NA19651, HG00683, HG01170, HG00262, NA19719, NA20340, NA19371, NA19075, NA18617, NA19471, HG01176, NA19159, NA19002, NA19725, NA18520, HG00338, HG00178, NA18908, NA18973, HG00419, NA19451, HG00464, HG00108, NA20818, HG00543, HG01136, HG00188, HG00149, HG00560, NA19247, NA19082, NA19707, HG01384, NA12342, NA19462, NA19391, NA19982, HG00500, NA19788, NA18910, NA20770, NA19776, NA19655, HG00373, NA12892, NA18853, NA20282, NA19225, NA19756, HG00141, NA19160, NA20542, NA19401, HG00119, NA11881, NA19834, NA18543, NA18950, HG00375, NA19732, HG00136, HG00319, HG01108, NA20803, HG00125, NA20341, NA19818, NA19376, NA19078, HG00672, HG00578, NA19248, NA19472, HG00174, NA19726, HG00343, NA18552, HG00252, HG01377, HG00472, NA18505, NA20322, HG00345, HG01097, NA18549, HG01191, NA19153, NA19394, NA20761, HG01173, HG00143, NA19703, HG01462, NA19909, NA20766, NA20508, NA19066, HG00242, NA19204, NA18861, NA18508, NA10851, NA12273, HG01066, HG00315, NA20816, HG00244, HG00181, NA19359, NA19355, NA12340, NA18959, HG00115, HG00654, NA19443, HG01051, HG00261, NA20771, NA18510, NA12399, NA18602, NA19107, HG00663, NA07346, NA18519, NA19319, NA18597, HG01351, NA20774, HG01168, NA18923, NA07347, NA20287, NA19904, NA19130, NA11930, NA20539, NA12275, HG01080, HG00148, HG00156, NA11932, HG00232, NA19372, NA11994, NA19235, NA19207, HG00705, NA19722, HG00118, HG01198, HG01048, NA20753, HG01124, NA19908, HG00443, HG00268, HG01171, NA19670, NA19403, HG00245, NA18933, NA19455, NA20314, HG00275, NA18871, NA18534, HG00740, NA19461, NA11919, HG00651, HG00531, HG00684, HG01101, NA18553, NA19099, HG00146, NA18963, NA12144, NA19469, NA18570, NA18858, NA12546, HG01075, NA18974, NA12043, NA18953, NA19375, HG00258, NA18632, NA19390, HG00265, NA19147, HG00353, NA19072, NA12272, HG01551, NA20790, NA20530, NA19835, HG00473, HG00237, NA19679, NA19324, NA19311, NA20544, HG01137, NA19783, HG01489, NA18501, NA19716, NA19468, NA19474, NA19093, NA18636, NA20786, HG00280, NA20758, NA19116, NA19711, NA19900, NA18983, NA19430, NA11892, HG00171, NA12890, NA19463, NA19063, NA20754, NA19346, HG00553, HG00403, HG01098, NA20543, HG00231, HG00249, NA11829, HG00361, NA19914, NA19332, NA20532, HG00640, HG00367, NA18486, HG01465, NA19393, NA19777, NA19057, NA18606, NA18870, NA07357, HG01140, HG00327, NA19374, NA19396, NA19381, HG01366, HG01070, NA19201, NA19382, NA19762, NA19448, NA19119, NA18619, NA12891, HG00346, HG00369, NA19782, NA19404, HG01067, NA19383, NA06984, NA18977, NA19917, NA19137, HG01072, NA19385, NA18986, HG01440, NA20811, NA19901, NA19445, NA18975, NA20533, HG00264, HG00260, NA10847, HG00133, NA19210, NA19437, HG01187, NA18934, HG00596, HG00328, NA19152, HG00653, NA18956, NA19236, NA18516, HG00436, HG00320, HG00533, NA18637, HG00619, HG01390, HG01073, HG00273, NA19114, NA20299, NA18856, NA12249, HG00525, HG00321, NA19338, NA19257, HG00276, NA18634, NA20534, NA19675, NA19436, NA18546, HG00124, NA12716, NA18909, HG01190, NA19321, HG00366, NA19473, HG00357, NA19435, NA19240, NA19773, NA19380, NA19144, NA19334, NA19439, NA19467, NA07037, NA19398, HG01254, HG00123, HG00698, HG00131, NA19213, NA18488, NA19758, NA07000, NA18522, HG01112, HG00554, NA18622, HG01061, NA12776, NA18965
Known GenesDCAF6
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672177
Frequency
Sample Size1151
Observed Gain0
Observed Loss528
Observed Complex0
Frequencyn/a


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