A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670466



Internal ID9589885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:82970370..82970665hg38UCSC Ensembl
chr16:83003975..83004270hg19UCSC Ensembl
Cytoband16q23.3
Allele length
AssemblyAllele length
hg38296
hg19296
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6441831, essv5886609, essv5885747, essv6328638, essv6373951, essv5430274, essv5806350, essv6347977, essv6522708, essv5856095, essv5486912, essv5790575, essv5503484, essv6277866, essv6144666, essv5712210, essv5793375, essv6451154, essv6424539, essv6034106, essv5511038, essv5845737, essv5765356, essv6576668, essv6258479, essv6198091, essv6581644, essv6403338, essv5988684, essv5609917, essv5589192, essv6499032, essv6493267, essv6028323, essv5458284, essv5903060, essv5746307, essv5995368, essv5490879, essv5604234, essv6131956, essv6224734, essv5637684, essv6337423, essv6205538, essv6369250, essv5959540, essv5751746, essv6592756, essv6537176, essv6075854, essv6408001, essv5619619, essv5627820, essv6490425, essv6152941, essv5704344, essv5746484, essv5489434, essv5807134, essv5521358, essv5830526, essv6188105, essv5929152, essv5901418, essv5647184, essv5726161, essv5538801, essv6543925, essv6439329, essv6246491, essv6182488, essv5938644, essv6506408, essv5819305, essv5697204, essv6060006, essv6564862, essv6074456, essv5686757, essv5722983, essv6282742, essv6516193, essv5678177, essv5969866, essv6514852, essv6088089, essv6500069, essv5477542, essv6190126, essv6236174, essv5755173, essv5764388, essv5976197, essv5890996, essv5416124, essv6553309, essv5581838, essv5830861, essv6094422, essv5507602, essv5552099, essv6480489, essv6179044, essv5757550, essv6426127, essv5740689, essv5765126, essv6557940, essv5963630, essv5557943, essv5732406, essv5770741, essv6087721, essv6461751, essv6577906, essv6303107, essv5471429, essv5814463, essv5637565, essv6323061, essv5483973, essv5982038, essv5998941, essv5566061, essv5472699, essv6338190, essv5940150, essv6149200, essv5816238, essv6305258, essv5895624, essv5408384, essv6116486, essv5791090, essv6280487, essv5861465, essv5770133, essv6291395, essv5575324, essv5586725, essv5707835, essv6453215, essv5712747, essv5767994, essv5898913, essv5646887, essv6140084, essv5554668, essv5797708, essv6168569, essv5543727, essv6560813, essv5458358, essv5814481, essv6094074, essv5573881, essv5888566, essv5477513, essv5607283, essv6300517, essv5426451, essv5477136, essv5604392, essv5519871, essv6079616, essv6000878, essv6506172, essv5488202, essv6579501, essv5696277, essv5503627, essv6392959, essv6108772, essv6273949, essv5821394, essv5786198, essv6335669, essv6598022, essv6551482, essv6581747, essv6476715, essv6050970, essv5790831, essv5628597, essv6358476, essv6316069, essv5897033, essv6091212, essv5547912
SamplesNA19137, NA11881, NA19207, NA18964, NA12043, NA19152, HG00536, HG00607, NA07347, NA12750, NA19712, NA11930, NA18951, NA19321, NA18534, NA20785, NA18523, NA19437, NA18952, NA18975, HG00705, HG00500, NA18612, NA19209, NA19783, NA19060, HG00310, NA18550, NA19003, HG00261, NA10847, NA18545, NA20802, HG00463, NA11931, HG00614, HG01051, NA12813, HG01492, NA18972, NA18947, HG01174, HG01491, NA18608, NA19920, NA20786, NA18542, HG00139, NA18489, NA19144, HG00106, HG00683, HG01204, HG00404, HG00280, HG00335, HG01134, HG00253, NA12287, NA18943, HG01171, NA18626, NA18949, HG00154, NA11919, NA12763, NA18967, NA18627, NA12282, HG00472, HG00337, NA11994, NA20811, HG00140, NA18576, NA18960, HG00259, NA19900, NA20504, NA20757, NA18990, HG00372, HG00692, HG00689, NA19088, NA12273, NA12761, NA18638, HG00149, NA18959, HG00150, HG00178, HG00419, NA18976, NA18973, HG00264, NA18593, HG00276, NA12830, HG00343, HG00133, NA12751, NA12006, NA19000, HG00436, NA19360, NA19080, NA19153, HG00124, NA07346, HG00108, HG01465, NA12892, HG00653, NA19374, NA19373, HG00185, NA18486, NA18968, NA18986, HG00559, NA06986, NA19238, NA18502, NA19119, NA18977, NA19098, NA19664, HG01170, NA19704, NA20818, HG00277, NA20774, NA19332, NA18988, HG00329, HG00534, HG01070, NA19131, NA19159, NA18579, NA20813, NA18974, NA18985, NA19789, NA18940, NA12891, HG00595, NA20534, NA18567, NA19201, NA20799, NA18538, NA12156, NA19116, NA18631, NA18989, NA18971, HG00448, HG00608, HG01390, NA11830, NA11992, NA11993, NA12399, HG00656, NA19160, NA18571, NA20543, HG00708, HG01177, NA19171, HG00690, NA12717, NA20528, NA18549, NA18853, NA19204, NA18981, NA18908, NA06994, NA18615, HG00476, NA19087, HG00345, NA18555, NA19200, HG00126, HG00531, HG01198
Known GenesCDH13
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670466
Frequency
Sample Size1151
Observed Gain0
Observed Loss190
Observed Complex0
Frequencyn/a


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