A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662299



Internal ID9581718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12554203..12554585hg38UCSC Ensembl
chr10:12596202..12596584hg19UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg38383
hg19383
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6549121, essv5453607, essv6065586, essv6119933, essv5691218, essv6338659, essv5693594, essv5502849, essv5452710, essv5581158, essv6499818, essv6361613, essv6118623, essv5519872, essv5753661, essv5673664, essv5971361, essv5926216, essv5953594, essv5504780, essv6578011, essv6491706, essv6348174, essv6320346, essv6046460, essv6515923, essv5678970, essv5603383, essv5988327, essv6122347, essv6017398, essv6243935, essv5995340, essv6400162, essv6227224, essv5404871, essv5765317, essv5400721, essv5900202, essv5480481, essv5653339, essv5730654, essv5981463, essv5866539, essv5585828, essv6447549, essv6287990, essv6506165, essv5930041, essv5723042, essv6518843, essv6260914, essv6400681, essv5461529, essv5688713, essv5649815, essv6055585, essv6092381, essv6220347, essv6231309, essv5762889, essv6138553, essv6532487, essv6324916, essv5878065, essv6594335, essv5925520, essv6261720, essv6164978, essv5841902, essv5600678, essv5522742, essv6152795, essv5538636, essv5553229, essv6095216, essv6137105, essv6398870, essv5875721, essv5485352, essv5789642, essv6473747, essv6352659, essv5720116, essv5473150, essv5763060, essv6184880, essv5832343, essv6509181, essv6576220, essv6381804, essv6552235, essv6279097, essv6076282, essv5982057, essv5431381, essv6161145, essv5682350, essv5472003, essv5679541, essv6502431, essv6072499, essv5878204, essv6592664, essv5832526, essv6290215, essv6015117, essv6479195, essv6370421, essv5992719, essv5772304, essv5621835, essv5472439, essv6495978, essv6414255, essv6168711, essv5877634, essv6322560, essv6124068, essv6521892, essv6457972, essv6571027, essv6002703, essv5565928, essv6547137, essv5620847, essv6395435, essv5869567, essv5733500, essv5597037, essv5467987, essv6462573, essv6466682, essv6173090, essv6146087, essv5773818, essv6378500, essv5560376, essv6085763, essv6492660, essv5713246, essv6317517, essv6506054, essv5902180, essv5497239, essv6373306, essv6561938, essv6387432, essv6267144, essv5911299, essv6377475, essv6111681, essv6465886, essv6552607, essv6257457, essv5657389, essv5549344, essv6511016, essv6346791, essv5847551, essv5835408, essv6170216, essv6340347, essv6067415, essv6057687, essv5507210, essv6449170, essv6576190, essv5732120, essv5793234, essv5709635, essv5443395, essv6363261, essv6178051, essv6135327, essv6517607, essv5790166, essv5644280, essv6238327, essv5718898, essv6032322, essv5543190, essv5998695, essv5674956, essv6426537, essv6088853, essv6494362, essv6201703, essv5929202, essv6165274, essv5582208, essv5991498, essv5497183, essv6588752, essv6546182, essv6406020, essv6537522, essv6350426, essv5693688, essv5710317, essv6001336, essv5982789, essv5430793, essv6225499, essv6075693, essv6174103, essv6218004, essv6140781, essv6485789, essv5519318, essv5500642, essv6055946, essv6502100, essv5397293, essv5828297, essv6545927, essv5469896, essv6535418, essv5759556, essv6167048, essv5463532, essv6248883, essv5606067, essv5602316, essv6590916, essv5857016, essv6014236, essv5786497, essv5517656, essv6431871, essv6282422, essv5404215, essv5890740, essv5456929, essv5940458, essv5902679, essv5731357, essv6296571, essv6080466, essv6036036, essv5723524, essv6117701, essv5751712, essv5455828, essv6062924, essv5894257, essv5483305, essv6121147, essv5658795, essv5644947, essv6310596, essv5828519, essv6335138, essv6443841, essv6289773, essv6284676, essv6287851, essv6131714, essv6456133, essv6188142, essv5697725, essv5541244, essv5639294, essv5571025, essv5511993, essv6536949, essv6302493, essv5910067, essv5904743, essv6339557, essv6434772, essv6117601, essv6518959, essv5916420, essv6084054, essv5671903, essv5528130, essv5824183, essv6396740, essv6173877, essv5649035, essv5604210, essv6305747, essv5797660, essv5838896, essv5811226, essv5790891, essv6006470, essv5682799, essv5670364, essv6512332, essv5624916, essv5473807, essv5771585, essv5513209, essv6402706, essv5972264, essv6152704, essv6103311, essv6327380, essv5665741, essv6580621, essv5906253, essv6587107, essv5791416, essv5729438, essv5955323, essv5726584, essv5553969, essv6584399, essv5878736, essv5624189, essv6179828, essv6467299, essv6217439, essv5684257, essv5519228, essv6428327, essv6274557, essv5832442, essv6438861, essv6403508, essv6334326, essv6527656, essv6136281, essv6592717, essv6320474, essv6092591, essv6306059, essv5568996, essv6044412, essv6378469, essv5686245, essv6330377, essv5534081, essv6330351, essv5773800, essv6243613, essv6170800, essv5653070, essv6222409, essv6029496, essv5679842, essv5422974, essv6368745, essv5784374, essv6379276, essv6592287, essv5723624, essv5619162, essv5773013, essv5445660, essv6040026, essv6158175, essv6337099, essv6297148, essv5414820, essv6262325, essv6469708, essv5844151, essv6265759, essv5658768, essv5567995, essv5784794, essv5701472, essv6129911, essv6508325, essv6283453, essv5953255, essv5456039, essv6475524
SamplesNA12383, HG00650, NA12717, HG01173, NA12842, HG00143, NA19703, HG00142, NA12286, HG00671, NA10851, HG00559, NA12273, NA18565, NA12414, NA11920, HG00257, HG01066, HG00315, NA18999, NA12751, NA20294, NA12340, NA19684, NA18530, HG00737, NA18616, HG01518, HG01461, HG00654, NA19920, NA18633, HG00261, HG00693, HG00663, HG00641, HG00138, NA19373, HG01350, HG00589, HG00272, NA18597, HG01351, HG01177, NA19678, NA18923, NA20756, NA20795, NA18558, NA18547, HG01492, NA18574, NA11918, NA18582, HG01083, HG01365, NA20291, HG00158, NA11930, HG00512, HG00281, HG00139, NA20539, NA19720, NA20518, NA20278, NA18868, NA12044, NA11994, HG00534, HG00705, HG00160, NA18985, HG00326, HG00323, HG00253, NA19789, NA20755, HG01124, HG00154, NA20535, HG00731, HG00443, NA18538, HG00268, HG01171, HG00380, HG00282, HG00557, NA12878, NA18933, NA20521, HG00657, NA19717, NA19663, HG00275, NA18579, NA12718, NA18572, HG00239, NA18981, HG00692, NA19064, NA18548, NA18537, NA19654, HG00324, HG00284, NA11919, HG00651, HG00404, HG00479, NA20581, NA12829, NA11893, HG00684, NA19750, NA19453, NA18912, HG00140, HG01334, NA19761, HG00152, HG00146, NA19682, NA12144, NA18523, NA18570, NA19625, HG01107, HG01075, NA19012, NA18974, HG01148, HG00258, NA19729, NA19652, HG00254, HG00265, NA19147, NA18517, HG00625, NA18564, NA19747, HG01357, HG01174, NA20530, HG00473, HG00237, NA19083, NA18943, NA19783, HG00418, NA18610, HG00620, HG00513, NA19716, NA19468, NA20510, NA18636, NA18609, HG00310, HG00112, HG00280, NA19116, NA19080, NA19780, HG00274, NA20502, NA18989, HG01111, HG01125, NA18624, NA20585, NA12154, NA18612, NA18577, NA19676, HG00096, HG01060, HG00114, NA19648, NA11830, NA19700, HG01521, HG01356, NA20543, HG00536, NA11995, NA11829, HG00524, HG01052, HG00187, NA18980, NA18561, NA19704, NA11933, HG01389, NA12045, HG00640, HG00367, HG00318, HG01465, HG00699, HG00103, NA12004, NA19777, NA18596, HG00566, NA12058, NA20346, HG00177, HG00150, NA20507, NA12400, NA12155, HG01140, NA19005, NA18944, NA18550, HG01366, HG00501, NA19728, HG00702, HG00173, NA19119, NA18635, NA12891, HG00330, NA12348, NA18942, HG00610, NA20540, NA12287, NA19138, HG00369, HG00270, NA19782, NA19681, HG00590, NA18611, NA12761, HG00277, HG00683, HG00236, HG01495, HG01072, NA19087, HG00309, HG00182, HG00427, NA19725, HG00338, HG00159, NA19209, NA12828, NA19445, NA18973, NA19200, NA18638, NA12748, NA11993, HG00464, NA11831, NA10847, HG00543, HG00313, HG00133, HG01183, HG01136, HG00188, HG00149, NA19210, NA19657, HG01360, HG00183, HG00596, NA12342, NA12003, HG00428, HG00190, HG00653, HG00577, HG00701, HG01515, NA18516, HG00320, HG00584, NA18637, HG00500, NA20506, NA18976, HG01073, HG00273, NA20299, HG00373, HG01197, NA18499, NA11894, NA18856, NA12249, NA12892, HG00321, HG00157, NA12827, NA19756, HG00141, NA18536, NA18634, NA19675, NA18945, NA18576, HG00476, HG00124, NA18542, NA12716, NA18909, HG00285, NA18961, NA18543, NA18559, NA19749, HG00366, HG00375, HG00357, HG00136, NA18941, HG00278, NA19773, NA19144, NA07051, HG00308, HG01494, HG00607, NA19786, HG00319, NA20797, NA07037, HG00256, HG00269, HG00125, NA19759, NA19078, HG00707, HG00111, HG00312, NA20582, HG00421, NA18987, NA12749, HG00656, HG01055, HG00123, NA12830, HG00186, HG00131, HG00343, NA20528, NA18552, HG01251, HG00372, HG00252, NA19661, NA19004, NA18511, HG01191, HG01061, HG00437, NA19153, NA18562, NA12776
Known GenesCAMK1D
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662299
Frequency
Sample Size1151
Observed Gain0
Observed Loss371
Observed Complex0
Frequencyn/a


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