A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673068



Internal ID9592487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65798226..65798559hg38UCSC Ensembl
chr1:66263909..66264242hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38334
hg19334
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6165636, essv6516234, essv5550753, essv5823184, essv5813039, essv5546271, essv5752649, essv5594041, essv5499691, essv6545965, essv5635002, essv5557916, essv5642219, essv5635536, essv5881326, essv5860017, essv5950738, essv5887637, essv6240238, essv5637869, essv6259529, essv6055288, essv5440471, essv6489489, essv5479651, essv6159722, essv5884051, essv5829027, essv6483039, essv6184468, essv6463940, essv5671383, essv6004401, essv6464029, essv6209224, essv6522944, essv6575718, essv5670383, essv5857316, essv5848305, essv5665664, essv6372862, essv6484533, essv6185708, essv6075509, essv5472404, essv5486501, essv5983579, essv6158829, essv5904948, essv6351648, essv6117496, essv6487766, essv6137013, essv6265286, essv5950217, essv6360202, essv6165629, essv6004657, essv5600241, essv5548897, essv5421563, essv5740251, essv6263422, essv6501320, essv6148144, essv5921171, essv5411381, essv5636238, essv5566605, essv5573865, essv5619763, essv6497325, essv5813220, essv5589949, essv6184734, essv5842341, essv5560728, essv6492415, essv6221013, essv6420603, essv5884214, essv6095452, essv6274504, essv5414148, essv5781859, essv6417588, essv5949668, essv6218467, essv6013161, essv5645268, essv6495377, essv5589451, essv6057286, essv5981412, essv6292669, essv6463045, essv5960609, essv5731497, essv6248123, essv6072076, essv6093482, essv6020849, essv5629571, essv6477403, essv5579811, essv6477194, essv6485246, essv6131030, essv5966901, essv5504412, essv5662571, essv6561131, essv5609632, essv6555594, essv5812528, essv6140199, essv5587257, essv5927646, essv5497149, essv6237051, essv5678818, essv5627939, essv6070625, essv5585901, essv5635327, essv5923818, essv6190905, essv6156893, essv5992157, essv6557944, essv6480589, essv6102106, essv5915630, essv5616812, essv5396357, essv5834398, essv5415955, essv5512651, essv6259079, essv6179603, essv5613660, essv6335497, essv5463428, essv6186622, essv5646097, essv6439264, essv6293904, essv6138266, essv5622826, essv5671654, essv5687017, essv6497196, essv6503256, essv6376798, essv5709354, essv5691494, essv6013046, essv5423800, essv5916325, essv6463180, essv6247026, essv5941212, essv6306035, essv5477183, essv5792029, essv5554778, essv6398161, essv5810035, essv6095949, essv5464532, essv5859059, essv5779826, essv6314580, essv5891913, essv5966644, essv5884643, essv5711375, essv6237651, essv5840346, essv5493764, essv5608269, essv6344238, essv6373191, essv6050042, essv6239020, essv6073116, essv5968501, essv5598920, essv5988068, essv6534739, essv5530901, essv6364215, essv5716962, essv5406758, essv5809259, essv5932595, essv6065277, essv5482608, essv6151074, essv6046892, essv5559883, essv6319144, essv6201136, essv6020589, essv6060711, essv5939410, essv6363095, essv6127348, essv5944109, essv5775796, essv5810790, essv6280602, essv6244055, essv6396427, essv5785604, essv5424473, essv5678230, essv6041069, essv6145458, essv5790364, essv5816869, essv6168365, essv5960844, essv6577545, essv6202623, essv5581293, essv5976578, essv5634956, essv5615817, essv6264816, essv6331962, essv5617889, essv6214389, essv5667740, essv6369484, essv5488329, essv5936386, essv5721072, essv5543342, essv5750835, essv6117587, essv6024769, essv5787833, essv6246521, essv5859496, essv6115254, essv5852605, essv6041204, essv5794534, essv5874307, essv5716045, essv5511237, essv5452496, essv5966153, essv5744887, essv6084556, essv5834934, essv5451020, essv6384358, essv6296121, essv5412111, essv6532076, essv6034797, essv6403018, essv5738505, essv6050833, essv5755414, essv6111496, essv5972989, essv5794899, essv5719765, essv6354415, essv5850714, essv5775026, essv6473165, essv5523422, essv5400949, essv5480788, essv5559332, essv6387262, essv6177464, essv6525570, essv6158079, essv5672009, essv6405721, essv5573375, essv5605595, essv6175256, essv6256166, essv6260679, essv6550789, essv5620103, essv6225602, essv5995559, essv5398352, essv6050595, essv6542641, essv6372190, essv6436087, essv6233762, essv6007828, essv6407448, essv5763739, essv5599163, essv6045846, essv5665215, essv5556709, essv5601998, essv5789457, essv6028644, essv6322238, essv6173998, essv6000575, essv6112831, essv5678998, essv5994587, essv5845291, essv6231273, essv5400725, essv5782274, essv5403033, essv6347353, essv5488742, essv5976484, essv5493546, essv5662938, essv5552405, essv5705890, essv6048982, essv5772063, essv5571878, essv6399275, essv6202122, essv5913321, essv6530341, essv6406432, essv5679906, essv6059165, essv5588088, essv6524098, essv5406341, essv6016508, essv5541127, essv6302016, essv6298714, essv6178961, essv6381118, essv6437578, essv5526687, essv6176887, essv6080743, essv6552241, essv6574719, essv6174477, essv5923049, essv5565145, essv6079867, essv6033164, essv6358419, essv5908540, essv5564597, essv5445376, essv6157963, essv6066350, essv6509838, essv6332827, essv5809931, essv5533833, essv5909890, essv6329979, essv5983210, essv5437980, essv6313299, essv5718112, essv6154442, essv6096915, essv6224997, essv5777161, essv6530185, essv6105893, essv6395290, essv5643326, essv5980621, essv5655345, essv6528641, essv5937906, essv6380696, essv5810927, essv5460499, essv6501925, essv6227966, essv6035652, essv6104785, essv5409438, essv6390254, essv5553589, essv6295596, essv5708825, essv5770401, essv5715924, essv6265584, essv5888494, essv5460371, essv6039408, essv6404430, essv6450197, essv5713601, essv6550885, essv6201510, essv5830101, essv6590511, essv5526165, essv6469190, essv5579684, essv6232196, essv6405241, essv5414992, essv5611090, essv5732306, essv5460132, essv5930307, essv5822223, essv5630153, essv6103275, essv6019916, essv6025840, essv6223048, essv6062008, essv5951114, essv6194475, essv5904387, essv6195243, essv6267652, essv6498869, essv5889754, essv5833507, essv5572961, essv6276041, essv6234919, essv6531240, essv6335694, essv5775850, essv6082443, essv5669733, essv6555241, essv6033430, essv5905864, essv5556368, essv5698001, essv5910238, essv6308827, essv6286383, essv6489574, essv5684692, essv6480319, essv6399800, essv5768135, essv5408075, essv5646812, essv5595013, essv6593909, essv5999690, essv6480762, essv6147802, essv6475288, essv5703174, essv5788912, essv6297061, essv5725097, essv5969009, essv6079601, essv5463770, essv5600626, essv6313730, essv5444008, essv6038837, essv5830488, essv6545850, essv6479925, essv6056077, essv6255386, essv5899614, essv5836520, essv6001869, essv5975579, essv5556703, essv6433799, essv6339804, essv6240194, essv5426068, essv5638494, essv6300239, essv5434913, essv6233098, essv5844337, essv6084288, essv5466608, essv5903737, essv5476649, essv5451172, essv5974256, essv6020045, essv5838021, essv5528230, essv5905430, essv5458233, essv6292407, essv6376717, essv5903963, essv6043682, essv5427070, essv6473334, essv6505331, essv5795203, essv6001721, essv6303623, essv5489730, essv6016671, essv6424822, essv6430174, essv6455289, essv6447765
SamplesHG00189, HG00650, HG00442, HG00608, NA18621, NA18947, NA19664, NA19399, NA19684, NA19377, NA18530, HG01461, NA19920, NA18633, NA12750, NA19067, NA19446, HG00138, HG01350, NA19379, HG00589, NA19678, HG01167, NA18558, NA18618, NA18574, NA20768, HG01083, NA19384, HG00537, HG00311, NA19079, NA18949, HG00512, HG00281, HG00139, NA19720, HG00335, NA20775, NA20812, NA18868, NA18985, NA20757, HG00323, NA18867, NA19921, HG00137, NA18605, HG00731, NA20800, NA18538, NA19070, HG00657, NA20810, NA20760, NA19663, NA18572, NA18948, HG00692, NA19064, NA18548, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, HG00331, NA19453, NA18532, NA19059, NA19009, NA19452, NA18523, HG00463, NA12778, NA19395, NA19625, HG01107, NA20799, HG00611, NA19440, HG00336, NA19712, NA19434, NA18564, NA18628, HG00580, NA19444, HG01174, HG00098, NA19428, NA19083, NA19360, HG00662, HG01342, HG00614, HG00513, HG00478, NA19223, HG00267, NA18609, NA18873, HG00377, HG00274, NA20503, HG00595, NA18989, HG00628, NA19065, NA18612, NA19074, NA18487, HG00581, NA18577, HG00593, HG00626, HG00096, HG00114, HG01441, HG00592, NA19055, NA19397, NA19466, NA18592, HG01359, HG01052, NA18980, NA18561, NA19704, NA18599, HG01389, HG01374, NA18603, HG00699, NA19819, NA12058, HG00150, NA19190, NA18526, NA19068, NA19746, NA19076, NA18550, HG00251, NA18489, NA18595, HG00702, HG00689, HG00173, NA19723, NA18635, HG00330, HG00634, HG00736, HG00610, NA19313, HG00247, NA19054, NA18498, NA20513, NA19681, HG01110, HG00590, HG01134, HG00277, HG00683, HG01170, HG00236, HG00262, NA19371, NA18560, NA18617, NA19471, NA19087, HG00182, NA19725, NA19189, NA18520, NA18908, HG00530, HG00419, NA19451, NA18638, NA12748, HG00464, HG00108, NA19007, HG00543, HG00149, HG00560, NA18613, HG00629, NA19082, NA19707, HG01384, NA19077, HG00428, NA19462, NA19391, HG00475, NA19982, HG00584, HG00500, NA19788, NA18910, NA19776, NA19000, HG00373, HG01197, NA18499, NA18536, NA18576, NA19685, NA19401, HG00476, NA19834, NA18952, NA18543, NA18559, HG00565, NA18950, HG00375, HG01253, HG00638, HG00607, HG00319, HG01108, NA20803, HG00256, NA19818, NA19376, HG00707, HG00672, HG00578, NA19248, NA19438, HG00329, NA18987, HG00174, NA19726, HG00343, NA18552, HG00252, HG01377, HG00472, NA19004, NA20322, HG00345, NA18549, HG00437, NA20509, NA19394, NA19701, HG00542, HG00143, NA19703, HG01462, NA19909, NA12286, HG00671, NA19066, HG00559, NA18565, HG00315, HG00244, NA19350, NA19359, NA19355, NA12340, NA18959, HG00737, HG00115, NA18616, HG00449, HG00654, HG00261, NA20771, NA18602, HG00693, NA18988, NA18627, HG00271, HG00663, NA07346, NA18563, NA19373, HG00272, NA18597, HG01351, NA18923, NA19062, NA19457, HG00334, HG00185, NA19904, NA19130, NA11930, HG01069, HG00148, HG00325, HG00232, NA19372, HG00534, NA19235, HG00705, HG00160, HG00118, NA18990, NA18557, HG01048, HG01133, NA18539, HG01124, HG00154, NA19908, HG00443, HG01171, NA19403, HG00557, HG00245, HG00732, NA19455, HG00556, HG00583, HG00263, NA18579, NA18871, HG01149, NA18534, HG00324, NA18573, NA19461, NA11919, HG00651, HG00250, HG00531, HG00479, NA20581, HG00684, HG01101, NA18553, NA18555, HG00152, NA19469, HG00246, NA18541, HG01075, NA19375, NA19003, HG00258, NA18632, HG00155, NA19390, HG00625, NA20276, HG00353, NA19072, HG01551, HG00734, HG01375, NA19835, HG00473, NA20778, HG00237, NA19679, NA19324, NA19311, HG01137, HG00418, NA18610, HG01489, HG00620, HG00339, HG00259, HG00342, NA19716, NA19468, NA19093, NA18636, HG00310, HG00280, NA19116, NA19080, NA19900, NA18983, NA11892, NA19316, HG01125, HG00171, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, NA19676, NA18620, HG01516, HG01098, HG00536, HG00231, HG00361, HG00524, NA19332, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, NA18545, NA19393, NA19777, NA19057, NA18596, HG00566, NA18606, NA12155, HG00327, NA19374, NA19396, NA19381, NA18944, HG01366, HG01070, HG00501, NA19382, NA19762, NA19448, HG01488, HG00448, NA20586, NA18982, NA19198, NA19088, NA18964, NA18611, NA19404, NA19383, NA18874, NA06984, NA18977, NA19917, NA19137, NA19385, HG00422, HG01440, HG00309, HG00427, NA19901, HG00159, NA18614, HG01353, NA18544, NA19437, HG01187, HG00596, HG00328, HG00190, HG00653, NA18956, HG00701, NA19236, HG00436, HG00533, NA18637, NA18630, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, NA20538, NA18856, HG00613, HG00525, NA12827, NA19257, HG00276, NA18634, NA20534, NA19675, NA18945, NA19436, NA20765, NA18546, NA18608, NA12716, NA18909, HG00285, NA18961, HG00366, NA19435, NA18941, HG00278, NA19380, NA12046, NA19334, NA19467, NA07037, NA19085, HG00269, NA19398, HG00111, NA19060, HG00421, HG00656, HG00123, HG00186, HG00698, HG00131, NA19213, HG01251, NA19661, HG01378, NA19755, NA18488, NA19758, NA18622, NA18562
Known GenesPDE4B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673068
Frequency
Sample Size1151
Observed Gain0
Observed Loss523
Observed Complex0
Frequencyn/a


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