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 Variantsessv5678230, essv5968501, essv5486501, essv6300239, essv5972989, essv5512651, essv6065277, essv6165629, essv6016671, essv6437578, essv5504412, essv5605595, essv5810790, essv5966644, essv5976578, essv5526165, essv6115254, essv6329979, essv5458233, essv5523422, essv5923049, essv6405241, essv5600241, essv6195243, essv6550789, essv5630153, essv6103275, essv6175256, essv6048982, essv5571878, essv6151074, essv5579684, essv5671383, essv6405721, essv5772063, essv6082443, essv5810035, essv6381118, essv6505331, essv6525570, essv6209224, essv6433799, essv5451172, essv6084556, essv5974256, essv6016508, essv6473165, essv6225602, essv6066350, essv5572961, essv5795203, essv5594041, essv5915630, essv5708825, essv6464029, essv6376717, essv5543342, essv6028644, essv6322238, essv6001869, essv5589949, essv5781859, essv5482608, essv5813039, essv6360202, essv6555241, essv6295596, essv5691494, essv5414992, essv5927646, essv6041069, essv6335497, essv5423800, essv5445376, essv5792029, essv5665215, essv5916325, essv5905430, essv5479651, essv5721072, essv5921171, essv6218467, essv5738505, essv5859059, essv5840346, essv5627939, essv5904948, essv6062008, essv5845291, essv5830101, essv5553589, essv6214389, essv5406758, essv5400949, essv5598920, essv5941212, essv6147802, essv6186622, essv6234919, essv6372862, essv5850714, essv5939410, essv6148144, essv6259529, essv6131030, essv6080743, essv6070625, essv6524098, essv6528641, essv6060711, essv6398161, essv6577545, essv6264816, essv6045846, essv6117496, essv5646812, essv6489489, essv5678998, essv6190905, essv5684692, essv5463770, essv5557916, essv5816869, essv5889754, essv5770401, essv6095949, essv5782274, essv6013046, essv5396357, essv6095452, essv5437980, essv6522944, essv6050042, essv5464532, essv5608269, essv5833507, essv6259079, essv5530901, essv5635327, essv5834934, essv6303623, essv6542641, essv6395290, essv5775850, essv6550885, essv5629571, essv6157963, essv6237051, essv6154442, essv6306035, essv6013161, essv5823184, essv6240194, essv6469190, essv5988068, essv6227966, essv5678818, essv6298714, essv5619763, essv6156893, essv6498869, essv5556703, essv5400725, essv5744887, essv6033430, essv6574719, essv6593909, essv6430174, essv6575718, essv5881326, essv5599163, essv6487766, essv6485246, essv5785604, essv5645268, essv5829027, essv5403033, essv5687017, essv5589451, essv5613660, essv5812528, essv6363095, essv5426068, essv5601998, essv5779826, essv5600626, essv6194475, essv5752649, essv6004401, essv6492415, essv6224997, essv5725097, essv5860017, essv6246521, essv5408075, essv6111496, essv5936386, essv5719765, essv6484533, essv5981412, essv5789457, essv6019916, essv5635002, essv6168365, essv6450197, essv6165636, essv5559883, essv6174477, essv6308827, essv6035652, essv6293904, essv6140199, essv6039408, essv6232196, essv5573375, essv5617889, essv5622826, essv5703174, essv5950738, essv6025840, essv6255386, essv5913321, essv5834398, essv5672009, essv6555594, essv5533833, essv6173998, essv5859496, essv6286383, essv6479925, essv6545965, essv6007828, essv6280602, essv5705890, essv5884643, essv5460371, essv5662938, essv5718112, essv6050833, essv6033164, essv5595013, essv5884214, essv5888494, essv5975579, essv6096915, essv5848305, essv5480788, essv5634956, essv5822223, essv6439264, essv6344238, essv6233762, essv6043682, essv5550753, essv5497149, essv6084288, essv6417588, essv6530341, essv6038837, essv5620103, essv5905864, essv5777161, essv5904387, essv6376798, essv5813220, essv6399800, essv6056077, essv5715924, essv5667740, essv5891913, essv6079601, essv6274504, essv5951114, essv5755414, essv6313299, essv5444008, essv5489730, essv6001721, essv6335694, essv6436087, essv5980621, essv6247026, essv6489574, essv6223048, essv5960609, essv6079867, essv5655345, essv6545850, essv5763739, essv6483039, essv5615817, essv6384358, essv6302016, essv5976484, essv5585901, essv6178961, essv5611090, essv5670383, essv5949668, essv6075509, essv5642219, essv6221013, essv6020589, essv6463045, essv5528230, essv6093482, essv6177464, essv5463428, essv5932595, essv6248123, essv6201510, essv5556368, essv5809259, essv5409438, essv5643326, essv5995559, essv5788912, essv6501320, essv5565145, essv6231273, essv5573865, essv6202122, essv5421563, essv5440471, essv6561131, essv6240238, essv5899614, essv6351648, essv5556709, essv6480762, essv6424822, essv6373191, essv6314580, essv6390254, essv5588088, essv5709354, essv5794534, essv5908540, essv6158079, essv6105893, essv5887637, essv6020849, essv5635536, essv6358419, essv6331962, essv5787833, essv6534739, essv5662571, essv5842341, essv5493546, essv6004657, essv5411381, essv6117587, essv5415955, essv5716962, essv5994587, essv5414148, essv5638494, essv6447765, essv6319144, essv6000575, essv6046892, essv6233098, essv6396427, essv6590511, essv5609632, essv6244055, essv6041204, essv5669733, essv6530185, essv6480589, essv5711375, essv6339804, essv5552405, essv6552241, essv6407448, essv6073116, essv6516234, essv6354415, essv5983210, essv5992157, essv6112831, essv5616812, essv5983579, essv6072076, essv5488742, essv5488329, essv6260679, essv6020045, essv5526687, essv5903737, essv6495377, essv6201136, essv6237651, essv5874307, essv6184734, essv6276041, essv6055288, essv6127348, essv5587257, essv6158829, essv5731497, essv6497325, essv5581293, essv5460499, essv5566605, essv5646097, essv5930307, essv5477183, essv6372190, essv6296121, essv6313730, essv6509838, essv5434913, essv5472404, essv5636238, essv5398352, essv5713601, essv5966153, essv6473334, essv5452496, essv6503256, essv5910238, essv5466608, essv5966901, essv5493764, essv6104785, essv5775796, essv5838021, essv5999690, essv5511237, essv5698001, essv6265584, essv5476649, essv5560728, essv6406432, essv5554778, essv5768135, essv6185708, essv6267652, essv6184468, essv5884051, essv6179603, essv6455289, essv6050595, essv5950217, essv6369484, essv5499691, essv6347353, essv5775026, essv6263422, essv6477194, essv5716045, essv5969009, essv6463180, essv5836520, essv6403018, essv5937906, essv6059165, essv5451020, essv5944109, essv5740251, essv6297061, essv5903963, essv6239020, essv6380696, essv5732306, essv5830488, essv5679906, essv6057286, essv6463940, essv5427070, essv6292407, essv5546271, essv6531240, essv6557944, essv6497196, essv5844337, essv5790364, essv6137013, essv6256166, essv6480319, essv6292669, essv5424473, essv6265286, essv6145458, essv6404430, essv6501925, essv6024769, essv6176887, essv6399275, essv5923818, essv6202623, essv6477403, essv5406341, essv5809931, essv6420603, essv6532076, essv5794899, essv6034797, essv6332827, essv5460132, essv5579811, essv5750835, essv5909890, essv5412111, essv5564597, essv5559332, essv6475288, essv5541127, essv6102106, essv5637869, essv6364215, essv5960844, essv5671654, essv5548897, essv6138266, essv5665664, essv5857316, essv5852605, essv6159722, essv6387262, essv5810927
SamplesHG00613, HG01441, NA19248, NA12154, HG00252, NA18605, HG01440, NA19712, NA18520, NA18595, NA18616, NA20771, HG00182, NA19904, HG00619, NA18534, HG01353, NA18530, NA18630, NA18871, HG00418, NA12286, NA19819, HG00328, NA18523, NA19437, HG00705, HG00437, HG00500, HG00171, HG01083, HG00274, HG00186, HG00464, NA19093, HG00131, HG00565, NA18526, HG00155, NA19311, HG00160, NA19469, NA19223, NA19435, NA18545, NA18603, HG01389, HG00463, HG01197, HG00657, NA19359, HG00614, NA19334, HG00189, NA19788, NA19453, NA20800, HG01488, HG00428, HG00475, NA18947, HG00542, HG01174, HG00148, NA19920, HG01350, HG00139, NA18489, NA18541, NA18546, NA19379, HG01167, NA12058, HG00683, HG00698, HG00111, HG00334, HG00581, NA19685, HG00404, HG00280, HG00335, HG01101, HG01134, NA19257, NA19701, NA19236, HG00319, HG00737, HG00699, NA20322, NA18557, NA20803, NA18950, HG01171, HG00353, NA18596, NA18628, NA18949, NA18868, HG00269, HG00592, NA19077, HG01107, NA19062, NA19463, HG00556, NA11919, NA19085, HG01384, NA18627, NA19076, HG00593, HG01375, NA19390, HG00421, HG01378, NA18635, NA19917, NA18536, NA19675, NA18622, HG00259, HG00096, NA18623, NA19471, HG01048, NA19444, NA18617, NA18990, HG00692, NA18636, HG01124, NA18592, NA19083, NA19088, HG00315, NA18956, NA19908, HG00098, HG00149, NA18959, HG00533, NA18609, NA18637, HG01253, HG00174, HG00634, HG00276, HG01187, NA19457, HG00343, NA19082, HG00662, NA19324, NA19190, NA19000, NA19055, HG00373, NA19360, NA19725, HG00267, NA19313, NA19380, NA19395, NA19080, NA07346, NA12716, HG01465, NA19189, NA19372, HG01516, NA18633, HG00653, NA19374, HG00640, NA20760, HG00732, NA12778, NA19384, HG00325, NA19716, HG00185, HG00263, NA19664, HG00501, HG00672, HG01170, HG01069, NA11892, NA18961, HG00277, HG01351, HG00524, NA19720, HG00534, HG00525, NA18910, HG00377, HG00236, NA19777, NA19235, NA18987, HG00427, HG01137, NA18597, NA19921, NA19376, NA18909, NA19391, NA19723, NA20276, NA18538, NA19009, NA19116, HG00118, NA18544, NA19755, NA19818, HG00608, HG00654, HG01390, NA18614, HG00530, NA18548, NA20810, HG00123, HG00285, NA18944, HG01366, NA18499, NA19371, HG00708, NA19198, HG01108, NA18610, HG00566, NA19130, NA19346, HG00625, HG00690, HG00473, NA19350, NA18908, HG00626, HG01377, HG00671, NA19087, HG00702, NA18555, NA19385, HG00271, NA19661, NA19466, NA19746, HG00531, NA18553, HG00327, HG00323, NA19137, NA12827, NA18964, NA19625, HG00152, HG00734, HG01359, NA19436, HG00318, HG00536, HG00607, NA12750, NA12748, NA11930, NA07037, NA20503, HG01052, HG01075, NA18561, NA19404, NA18952, NA18874, HG01342, NA18612, HG00731, HG00245, HG00596, NA19401, HG00736, HG00449, NA19060, HG00310, NA18550, NA19003, NA19072, HG00261, HG00707, NA19455, HG01098, NA12340, NA20775, NA18948, NA19451, HG00375, HG00173, NA18573, NA18608, NA20778, NA19461, HG00190, HG00701, NA19834, HG01461, HG00651, NA19004, NA19678, HG00557, HG00366, HG00578, HG00331, NA18488, NA19355, NA19084, NA19467, HG01551, NA18873, NA19776, HG00479, NA19438, NA20586, HG00247, HG01133, HG00256, NA18632, HG00342, HG00244, HG00635, NA19762, HG00115, HG00543, HG00154, NA18559, HG00339, NA19726, NA19067, NA19428, NA20585, NA19383, NA19982, HG00250, NA19054, NA19059, HG00472, HG00583, NA18566, NA19057, NA19068, HG00638, NA12155, NA18576, NA18563, NA18618, NA19900, NA20757, HG00610, HG00231, HG01047, HG00689, NA19396, NA20754, NA18856, HG00628, NA19397, HG00330, NA18638, NA19398, NA19440, NA19066, HG00150, NA20765, HG00419, HG00258, NA12829, NA19835, NA18982, NA19681, NA19663, NA19679, NA18634, HG00237, HG00584, NA19316, NA19684, NA18539, HG00114, NA19213, NA19676, HG00436, HG00159, HG00620, NA19377, NA12046, HG00108, NA18620, NA18572, NA19703, NA19375, NA19393, NA19373, HG00629, NA18498, NA18923, NA18486, HG00559, HG00560, HG01073, NA18558, NA18977, NA18941, NA19901, HG00232, NA19704, HG00478, NA18487, NA18564, NA19332, NA19909, NA18613, HG00513, NA18988, HG00329, HG00512, HG01070, NA19707, HG00246, NA18562, NA19074, NA19382, NA18579, NA18985, NA19462, HG00589, NA18945, HG01149, NA18606, NA18543, NA20581, HG00590, HG00595, NA18552, NA20534, NA18983, HG00443, NA18599, HG00611, NA20799, HG00650, NA06984, NA18867, NA19394, NA19403, NA18565, HG00138, HG00663, HG00262, NA18560, NA18989, HG00580, NA19434, HG00311, HG00448, NA18602, NA18577, NA19446, NA20509, NA19452, NA20513, NA19064, HG00281, NA19063, NA18917, NA19399, NA20812, HG00656, HG00422, HG01251, NA19070, HG00367, HG00693, NA18611, HG01125, HG00251, NA20768, HG00324, NA18532, NA18549, NA18574, HG00442, HG01374, HG00137, HG01102, HG01462, HG01489, NA19079, NA19381, HG00684, HG00143, HG01110, NA19758, HG00336, HG00476, NA19448, HG00272, HG00345, NA19468, NA20538, HG00278, NA19007, NA19065, NA18980, HG00361, NA18621, HG00309, HG00537
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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