A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664784



Internal ID9584203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:104812951..104815882hg38UCSC Ensembl
chr6:105260826..105263757hg19UCSC Ensembl
Cytoband6q16.3
Allele length
AssemblyAllele length
hg382932
hg192932
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6341704, essv6573811, essv6227435, essv6371882, essv5848273, essv5682504, essv6553677, essv6553900, essv5523183, essv6240700, essv5477676, essv6220149, essv5439945, essv6416979, essv6554853, essv5573886, essv6203292, essv6284739, essv5779330, essv6122008, essv5588248, essv5626701, essv5784571, essv5888831, essv6405049, essv5563329, essv5684356, essv6263340, essv5770569, essv5825175, essv5720998, essv6462662, essv5812071, essv6281193, essv6343031, essv5666653, essv6138736, essv6336093, essv6047141, essv5563453, essv5988361, essv5828202, essv5942457, essv6213947, essv6211729, essv5757962, essv6401161, essv6442725, essv6176256, essv6279214, essv5455808, essv6085166, essv6256268, essv5447342, essv5605555, essv6183061, essv5417032, essv5630547, essv5742134, essv6393321, essv6559041, essv6267529, essv5965139, essv5752518, essv5861577, essv5816382, essv5495147, essv5650315, essv6338956, essv6430003, essv6120545, essv5630891, essv6101383, essv6175139, essv6477806, essv5898378, essv5593894, essv6507957, essv5907063, essv6111817, essv6268388, essv5754338, essv6338459, essv6345264, essv6104183, essv5748518, essv5941364, essv5974520, essv6292301, essv5971189, essv6180831, essv6076861, essv6416546, essv5669126, essv6148556, essv6214048, essv6276378, essv5447665, essv6056133, essv5817093, essv5479598, essv5854432, essv5952428, essv5622444, essv6252958, essv6088584, essv5932283, essv6445319, essv6472371, essv5918276, essv6007741, essv5642639, essv6118600, essv6381555, essv5626294, essv6245442, essv5405748, essv5857000, essv5812486, essv5438513, essv5712203, essv5472112, essv5962461, essv6122693, essv6142779, essv5541749, essv6219480, essv6491179, essv6571133, essv6417097, essv6454405, essv5579390, essv5772343, essv5659464, essv6429403, essv5402160, essv5694595, essv6160305, essv6304597, essv5421315, essv6197119, essv6241916, essv6533901, essv6001167, essv5493552, essv5995891, essv5770124, essv6281330, essv6449226, essv6571482, essv5813438, essv5899647, essv5530026, essv5557153, essv6370007, essv6041366, essv6081045, essv5734164, essv5953162, essv6159350, essv6086492, essv5674279, essv6515209, essv5466778, essv5623206, essv5739292, essv5944277, essv6373431, essv6220685, essv5645774, essv6590786, essv5688232, essv5739837, essv5846552, essv6063331, essv5866824, essv6078411, essv6197777, essv6473979, essv6375623, essv5591407, essv5857065, essv6444536, essv5517186, essv5519974, essv5534705, essv5764052, essv6189420, essv6446609, essv5913297, essv5455371, essv6103748, essv6275891, essv6453571, essv5544660, essv5842798, essv5889938, essv6142439, essv5580116, essv6419259, essv6513555, essv5948203, essv5958442, essv6519654, essv6553878, essv5634705, essv6180984, essv5407677, essv5720298, essv6102850, essv6136315, essv6512345, essv5851011, essv6492957, essv6498289, essv6579336, essv6428682, essv5898542, essv5698569, essv5845414, essv6492963, essv5561372, essv5803258, essv5797190, essv6374045, essv5463036, essv5673928, essv6254468, essv6345586, essv5823473, essv6233243, essv6473489, essv5972536, essv5743155, essv5588482, essv6384539, essv6580403, essv5507358, essv5737223, essv5943003, essv6112517, essv6512812, essv6228351, essv6355453, essv5580340, essv6136479, essv6269667, essv6483740, essv5657221, essv5784914, essv6055300, essv6454790, essv5976492, essv6140395, essv5710203, essv6253650, essv6491496, essv5822989, essv5441332, essv6161821, essv6378101, essv5906616, essv5953477, essv6104592, essv5989355, essv5639366, essv6238143, essv6305090, essv5758964, essv6137152, essv6361170, essv5594001, essv6252564, essv5976275, essv5872546, essv5541160, essv5694031, essv6376871, essv6018034, essv6051367, essv5766444, essv5871856, essv5596217, essv5681500, essv6139362, essv6011851, essv6402456, essv5747128, essv5418989, essv5591454, essv5458224, essv5899477, essv6326535, essv5507071, essv5549675, essv5683238, essv6565323, essv6429870, essv5867567, essv6020098, essv6553980, essv6571378, essv6020095, essv6044786, essv6206427, essv5726194, essv5862270, essv5574192, essv5888723, essv5545691, essv5680221, essv5960766, essv5826990, essv5921626, essv6063872, essv6228651, essv6268914, essv5655425, essv6002588, essv6586269, essv6177111, essv5603394, essv5683044, essv5756263, essv6460666, essv6495101, essv5896138, essv5922445, essv5731762, essv5778486, essv5785330, essv6028589, essv6449444, essv5466368, essv6338131, essv5665202, essv5870422, essv5696550, essv5797687, essv5528990, essv5790210, essv5569880, essv5675408, essv5827064, essv6426343, essv5445770, essv5538325, essv6128251, essv6320524, essv5947332, essv6314403, essv5515244, essv5820110, essv6333873, essv5749547, essv6350737, essv6434982, essv5736448, essv5884898, essv6150391, essv6423511, essv5858688, essv6016890, essv6283104, essv6005594, essv6198890, essv6252617, essv5974734, essv6084985, essv6367661, essv5465260, essv6010208, essv5560625, essv5420745, essv6448336, essv6259171, essv5443356, essv5508473, essv5884818, essv6581229, essv5593531, essv5890530, essv5682312, essv6031102, essv6380944, essv6329508, essv5780843, essv5736036, essv5554519, essv5981187, essv5633423, essv6589577, essv6414906, essv6572318, essv5518281, essv6267142, essv5678367, essv6429462, essv5501121, essv5656110, essv6184078, essv5494231, essv5878290, essv6445957, essv5555589, essv5773508, essv5902664, essv5644968, essv5404913, essv5679175, essv5942654, essv5931816, essv6229769, essv5801595, essv6183261
SamplesHG00613, HG01441, NA11881, NA18870, NA19248, HG00157, NA12154, NA12489, HG00252, NA18605, HG01440, NA20787, HG00182, NA19904, HG00619, NA18530, NA18630, NA18871, NA19081, HG00551, NA12342, HG00328, NA18523, NA19437, HG01083, HG00112, HG00464, NA19093, HG00131, NA20796, HG00565, HG00155, NA20531, HG00160, NA11918, NA19223, NA18545, NA19319, NA20296, HG01197, HG00657, NA18516, NA19359, HG00614, HG01051, NA19334, NA19788, NA19331, NA19453, HG01082, NA18517, HG00428, NA18947, HG00368, HG00148, HG00139, HG00739, NA18489, NA18541, NA19379, HG00683, HG00698, NA19685, HG00187, NA07051, HG01101, NA19257, NA19701, HG00319, HG00737, HG00253, NA20322, NA18557, NA19472, NA18596, NA18868, HG00269, NA19077, NA19062, HG00158, HG00556, NA11919, NA12763, HG00593, NA19390, NA19917, NA19197, NA19443, HG01048, NA19107, NA19444, HG01061, NA20530, NA18990, HG01183, NA18636, HG01124, NA12273, NA20127, NA19429, NA19908, HG00533, HG00125, NA11843, NA11831, NA11894, NA12400, NA11995, NA18916, HG00174, NA18593, HG00343, NA20341, HG00373, NA19247, NA19360, HG00267, NA19380, NA19395, NA19786, NA19080, NA07346, HG01465, NA19129, NA19372, HG01516, NA20291, HG01191, NA19374, NA20760, NA20348, HG00732, HG00325, NA12348, NA18968, NA18986, NA19102, HG00263, HG00559, NA06986, NA18522, NA20753, NA20344, NA18502, NA19119, NA19657, HG00560, NA19713, NA19731, NA19098, NA19664, NA19901, HG00282, HG00232, NA19704, HG00249, NA18487, NA18564, HG00116, HG00277, NA19347, NA20828, NA19332, NA19909, NA20815, HG00524, HG01494, HG00153, HG00329, HG00512, HG00534, NA20766, HG00246, NA18562, NA19074, NA19131, NA19159, NA18910, NA19382, HG00377, NA19318, NA18985, NA19462, HG00589, HG01149, NA18606, HG00120, NA18543, NA11832, NA19235, NA12891, NA18987, NA12890, NA18582, NA20525, NA20581, HG01137, NA18597, NA19138, NA19376, HG00443, NA18567, NA19391, HG01334, NA12749, NA20276, HG00650, NA06984, NA18538, NA18867, NA19403, NA12413, NA18565, NA20518, HG00663, NA12156, NA12889, NA19116, NA19431, NA18989, NA20289, NA19434, HG00311, NA18602, NA19818, HG00608, NA18577, NA19099, NA20509, HG01390, NA12878, NA18614, NA19452, NA12003, NA19064, NA20810, NA19749, HG00281, HG00285, NA18917, NA12399, NA19399, NA20812, HG00656, NA12546, NA12842, HG00142, HG01366, NA18499, NA18571, HG00708, NA19916, HG01108, NA19470, HG00367, NA12045, NA18984, NA19315, NA20792, NA11932, NA19130, NA19171, NA12717, NA20528, NA18532, NA18853, NA19204, NA19350, HG01102, HG01462, NA18908, NA19381, NA19473, HG00626, HG00684, HG01377, NA06994, HG00336, HG00476, NA12760, NA19448, HG00671, NA20772, HG00272, NA19468, NA20538, HG00704, NA19200, NA19661, NA20519, HG00136, NA18519, HG00126, NA07000, NA19058, NA19466, HG01067, HG01354, NA18553, HG01198, NA19137, NA12718, NA19625, HG01359, NA19436, HG00536, HG00607, NA12748, NA20278, HG01250, HG00100, NA18561, NA18933, NA19404, NA18952, HG00145, NA18874, HG01342, HG00596, NA19783, NA19060, NA19003, NA19072, NA18511, NA19455, NA20299, NA20294, NA19430, NA19670, NA19317, NA19451, NA19010, HG00375, HG00326, HG01491, NA20778, NA20786, HG00270, NA19461, HG00190, NA19210, HG00106, NA19834, NA20588, HG01188, HG01204, NA20314, NA19004, HG00366, HG00146, NA18488, NA19474, NA19084, NA12044, NA19467, NA18873, NA19147, HG00188, HG00479, NA19438, HG00247, HG00115, HG00543, HG00339, NA12843, NA20533, NA18624, NA18508, NA19059, NA20819, NA20356, NA20515, HG00472, HG00583, HG00337, NA19057, HG00638, HG00180, NA18563, NA07357, NA19722, HG00610, HG01495, NA20754, NA18856, NA07048, NA18638, NA20541, HG00150, NA18547, NA19256, NA20282, NA20336, NA19773, HG00403, HG00237, HG00133, NA18539, NA19213, HG00436, HG00159, HG00620, NA19153, NA12046, NA19172, NA12892, NA19703, NA19375, NA19393, NA20126, NA20512, HG00629, NA18498, NA18923, NA20826
Known GenesHACE1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664784
Frequency
Sample Size1151
Observed Gain0
Observed Loss415
Observed Complex0
Frequencyn/a


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