A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672897



Internal ID9592316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:77487590..77487834hg38UCSC Ensembl
Outerchr17:77487463..77487960hg38UCSC Ensembl
Innerchr17:75483916..75483672hg19UCSC Ensembl
Outerchr17:75483545..75484042hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv569e199
Supporting Variantsessv5435038, essv6291471, essv5704454, essv5544670, essv6166003, essv5630763, essv5682496, essv6498660, essv6076045, essv6102689, essv6464475, essv6327387, essv6501549, essv5896055, essv5662179, essv6090348, essv6506743, essv5913175, essv5697070, essv6528794, essv6250151, essv5434568, essv6561168, essv6050752, essv5762937, essv5774262, essv6432926, essv5493073, essv5488120, essv5898835, essv6216897, essv5798164, essv6484636, essv5755695, essv5452232, essv5489014, essv5920633, essv6546004, essv6341084, essv5454722, essv6426795, essv5922649, essv5641655, essv6526357, essv6477328, essv6406967, essv5648618, essv6263865, essv5611149, essv6274069, essv6028163, essv6107069, essv5626650, essv6126300, essv6157030, essv6198790, essv5422709, essv6409752, essv5975481, essv5912264, essv5539724, essv6056486, essv5789312, essv5610789, essv5764663, essv6539183, essv5905316, essv5983363, essv6535753, essv5992576, essv5405885, essv5756026, essv5437340, essv6138275, essv5841759, essv6472300, essv5810388, essv6213402, essv5698304, essv6295569, essv5913073, essv5705429, essv5713669, essv6037480, essv6525741, essv5930470, essv6492213, essv5400275, essv5804954, essv6243096, essv6152123, essv5562963, essv6219622, essv5531981, essv5883939, essv5533616, essv5676520, essv6311766, essv6008910, essv6437473, essv5635887, essv5953711, essv5743999, essv5863986, essv6356420, essv6326133, essv5453117, essv6068591, essv5574768, essv6167498, essv6410910, essv5991847, essv5644171, essv6450034, essv5922178, essv5745159, essv6353597, essv5419236, essv6094418, essv6192436, essv6185678, essv6512861, essv6285360, essv6546606, essv5505066, essv5593895, essv6471667, essv5626224, essv5779663, essv6005287, essv6491825, essv5824356, essv5826357, essv6590268, essv6516240, essv6106176, essv5518502, essv5541669, essv6577719, essv6380231, essv6471489, essv6499828, essv6188776, essv6031090, essv5660887, essv6098191, essv6289088, essv6091806, essv6279588, essv5530499, essv5396108, essv5796529, essv6236494, essv5627615, essv5467760, essv6085003, essv6313425, essv6217197, essv5445556, essv6119970, essv5966767, essv6022126, essv6500770, essv5799937, essv5604869, essv5768226, essv5502757, essv5895554, essv5534704, essv5444251, essv5611130, essv5668424, essv5682823, essv5686140, essv6096194, essv6349473, essv5742215, essv6567844, essv6080954, essv5501573, essv5830088, essv5490504, essv5872950, essv6527809, essv6491056, essv5852506, essv5763413, essv6427689, essv6593961, essv5524601, essv6419606, essv6436404, essv5399088, essv6016828, essv6454057, essv6472058, essv6579072, essv5725091, essv6549782, essv6278763, essv6001693, essv5724782, essv6583303, essv6482563, essv6052813, essv6359004, essv6426861, essv5661216, essv6408916, essv5570365, essv5689100, essv6103236, essv6521087, essv6478613, essv6050909, essv6261503, essv6500276, essv6230549, essv6203512, essv6519340, essv5549110, essv6282465, essv6542992, essv5472857, essv5827528, essv6217834, essv6005330, essv5994625, essv5887587, essv5711045, essv5553304, essv6137414, essv6433871, essv6260350, essv6350576, essv5918809, essv5540013, essv6337415, essv5442251, essv5736764, essv6180785, essv6494637, essv5712757, essv5507189, essv6314646, essv6262609, essv6400976, essv5819465, essv6357210, essv6536664, essv6311985, essv6388095, essv6563504, essv5487259, essv6372339, essv6445099, essv5522419, essv6414555, essv6020165, essv6534277, essv5898631, essv5434137, essv5867950, essv5786976, essv5682664, essv6174722, essv6222928, essv5797180, essv5606816, essv5644530, essv6351929, essv6229660, essv6355175, essv6082155, essv5675045, essv6328471, essv6449128, essv5785969, essv6006706, essv6343162, essv6404281, essv5883301, essv5607430, essv5439029, essv6185573, essv6431947, essv6181535, essv5509176, essv5599935, essv6238359, essv6436488, essv5985525, essv6529710, essv5785411, essv5907661, essv6060705, essv5988663, essv6276222, essv6056316, essv5893745, essv5431360, essv5600245, essv5607080, essv5632546, essv5927591, essv6216007, essv5583239, essv5638930, essv6532874, essv5430857, essv5579041, essv6511378, essv6274582, essv6500435, essv5618655, essv6534697, essv6459071, essv6484851, essv6245648, essv6524563, essv5488520, essv6564061, essv6102318, essv5425603, essv6433028, essv6458782, essv5525775
SamplesHG01357, HG00613, NA19207, NA18870, NA19312, NA12154, NA12489, HG00537, NA18520, HG00619, NA18534, HG01353, NA18530, NA18871, HG00418, HG00328, NA18523, NA19437, NA19114, HG00705, HG00500, HG01173, NA19209, HG00464, NA18501, NA19311, NA11918, NA19469, NA19223, NA19435, HG01079, NA18545, NA19319, NA20296, HG00463, HG00657, NA18516, NA19359, HG00614, HG01365, NA19334, NA19331, HG01082, NA18517, NA19449, NA18489, NA19144, NA19379, NA18507, HG00111, HG00581, HG00335, HG00557, HG01101, NA19257, NA19108, HG00331, NA19236, NA19355, HG00319, HG00699, NA20322, NA18505, NA19472, NA18873, NA19147, HG01171, HG00353, NA18949, NA19438, NA18868, HG01521, HG00256, NA18632, HG00342, HG01107, HG00321, NA19463, HG00556, NA19428, NA11919, NA18912, NA19383, NA18624, NA18934, HG00250, NA18508, HG01375, NA19390, HG00421, HG00583, HG00337, NA18635, NA18536, HG00140, NA18576, HG00259, NA19197, NA19443, NA18623, NA19471, NA19107, HG01061, HG00692, HG01047, HG00689, NA18636, NA19396, NA18856, NA19397, NA12761, NA18638, NA18956, NA19398, NA19429, NA19440, HG00338, NA18959, HG00533, HG00419, NA18547, HG01360, NA11831, NA19256, HG01113, NA11894, NA18637, NA18973, NA20520, NA18916, NA18593, HG00254, NA12830, NA19457, HG00237, HG00343, NA12144, HG00584, NA19316, HG00662, NA19190, NA19213, HG00436, NA19247, NA19360, HG00620, NA19313, NA19377, NA19380, NA19395, HG00108, NA18620, NA19172, NA19189, NA19759, NA19372, NA18633, HG00653, NA19374, HG00268, HG01066, NA19375, NA19393, NA20126, NA19373, NA19384, HG00325, NA18498, NA18923, NA18486, NA19102, NA06986, NA18522, NA18510, NA18502, NA19119, HG01073, NA18558, NA19098, HG00501, HG00672, HG00273, HG00282, HG01170, HG00232, HG01069, NA18504, HG00478, NA18858, HG00277, NA19347, HG01351, NA19332, NA18613, HG00513, NA19720, HG00329, HG00534, NA18562, NA19131, NA19159, HG01060, NA18910, NA19382, NA18579, NA19318, NA19462, HG00589, NA18606, NA18543, NA19235, NA18582, NA18597, HG00590, NA19138, NA19376, HG00443, NA18599, NA18907, NA18909, NA19391, HG01334, NA20332, HG00650, NA18867, NA19394, NA19403, HG00663, NA19116, NA19431, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, HG00654, HG01390, NA19452, NA20507, NA20513, NA18548, NA11830, NA19749, NA19225, NA19327, NA18917, NA11993, NA19399, NA19160, NA18499, HG00422, NA18924, NA19371, NA19198, NA18610, NA19470, NA19130, HG00251, NA19171, NA19346, HG00324, NA20528, NA18549, NA18853, NA19204, HG00442, HG01374, HG00473, NA19350, HG00137, HG01102, HG01462, NA19381, NA19473, HG00684, HG01377, NA19758, HG00336, HG00476, NA19448, NA20502, NA19468, HG00702, HG00704, NA18555, NA19200, NA19385, NA18519, HG01067, HG01354, HG00327, NA19137, NA18964, HG00313, NA19152, HG01518, NA18861, NA19436, HG00318, HG00536, HG00607, NA19321, NA20522, HG01250, NA19404, HG01055, NA18952, NA18874, NA18612, NA19401, HG00449, HG00310, NA18550, NA18570, HG00261, NA18511, NA19455, NA18948, NA19317, NA19451, NA19338, HG00326, NA18573, NA18542, NA19461, HG00701
Known GenesSEPT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672897
Frequency
Sample Size1151
Observed Gain0
Observed Loss327
Observed Complex0
Frequencyn/a


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