A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2673981



Internal ID9593400
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1207339..1207760hg38UCSC Ensembl
chr1:1142719..1143140hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38422
hg19422
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5660197, essv6368218, essv6341849, essv6522474, essv6591878, essv6438293, essv6217750, essv5615345, essv5845678, essv5828027, essv5850739, essv5752385, essv6163227, essv5602057, essv6335967, essv5738934, essv6215106, essv6114438, essv5545854, essv5887860, essv6220846, essv5479749, essv5468369, essv5426116, essv6146097, essv5733303, essv5578606, essv5607310, essv5973645, essv6327643, essv5883227, essv5663198, essv5434081, essv6276421, essv6532865, essv5864128, essv6295641, essv5488749, essv6428860, essv6445344, essv5490777, essv6396639, essv5790385, essv5941008, essv6260022, essv6553343, essv6488935, essv5655953, essv5793601, essv6359108, essv5410354, essv5706433, essv6414667, essv5618107, essv5420730, essv5535991, essv6021886, essv6580334, essv6025649, essv5548255, essv5594683, essv5898963, essv5713207, essv5407641, essv6447551, essv5757575, essv5830102, essv5941170, essv5977635, essv6177899, essv6228976, essv6437150, essv5973359, essv5841447, essv6207338, essv5721341, essv5795930, essv6188254, essv5748924, essv6531799, essv6542299, essv6123419, essv6223357, essv5867308, essv6583114, essv6460089, essv5859573, essv5424544, essv6014100, essv5644417, essv5944582, essv6513521, essv6067469, essv6350182, essv5933284, essv5470790, essv6173656, essv6143825, essv6386945, essv6315900, essv5525837, essv5905120, essv5615034, essv5812347, essv6278709, essv6244536, essv6243422, essv5471503, essv5817920, essv6100913, essv6001217, essv6286183, essv5431171, essv5885018, essv5888259, essv6426568, essv6074043, essv6265257, essv6174159, essv6336469, essv5467091, essv6104290, essv5732879, essv6026203, essv6064219, essv5910221, essv6208875, essv6537251, essv6524753, essv5503996, essv6377477, essv6158659, essv6460871, essv5783493, essv6446815, essv6352121, essv5616249, essv5517206, essv6241074, essv5919286, essv5904698, essv5843050, essv5469789, essv6437407, essv6149675, essv5751448, essv6375782, essv5615341, essv5995640, essv5742494, essv6205811, essv6557644, essv5479850, essv6199767, essv6498297, essv6063198, essv6349629, essv6368260, essv6151804, essv5950163, essv6390017, essv6220496, essv5910672, essv5471360, essv5518716, essv6300674, essv6457377, essv6204433, essv6420303, essv6480469, essv6275996, essv6424641, essv6561033, essv5834705, essv6252430, essv6325266, essv6471445, essv5513375, essv6278188, essv5978628, essv5703075, essv5832123, essv6351628, essv5465256, essv6538355, essv6463915, essv5616664, essv5471121, essv5559627, essv6439682, essv5583578, essv5971444, essv6456001, essv5991660, essv5638447, essv5945444, essv6256029, essv6013025, essv5874172, essv6578498, essv6101258, essv5577785, essv5863471, essv6458867, essv5411481, essv5429106, essv5578554, essv6262943, essv5633920, essv6118569, essv6564758, essv5656577, essv5398394, essv5740683, essv5559069, essv5456664, essv6529541, essv6224800, essv5726618, essv6226909, essv6493220, essv6538666, essv5750987, essv6128686, essv5657226, essv5517797, essv6231889, essv6280172, essv6101186, essv5938197, essv6381288, essv6045437, essv5834192, essv6320910, essv5577522, essv6406899, essv5496017, essv5796220, essv6539319, essv5804443, essv5825826, essv6364636, essv6582863, essv5885998, essv6320340, essv6400391, essv5498166, essv5746960, essv5938008, essv5649812, essv5492773, essv6001694, essv6434770, essv6181789, essv6414705, essv6339144, essv6354596, essv6560586, essv5999100, essv6234077, essv5883717, essv5974899, essv6448880, essv6363574, essv5467001, essv5509795, essv5903725, essv5515576, essv6392240, essv5459892, essv6567171, essv5496511, essv6083679, essv6360631, essv5914728, essv6414527, essv6474836, essv5817051, essv6262209, essv5674877, essv6553185, essv6258016, essv5596504, essv5491686, essv5948251, essv5803129, essv5922588, essv5901085, essv5648964, essv5652419, essv5514109, essv5711626, essv6502810, essv5836591, essv5985350, essv6237721, essv6144046, essv6051065, essv5702989, essv6409217, essv6226006, essv5499361, essv6101279, essv6056766, essv5887466, essv5936962, essv6194663, essv5568792, essv5565444, essv5623261, essv5746061, essv5909372, essv6538862, essv6396964
SamplesHG00650, HG00542, HG00442, NA19058, NA20529, HG00143, HG01462, HG00608, NA18621, NA18947, NA12286, NA19664, HG00671, NA19066, HG00559, HG01066, HG00315, NA18999, NA19684, NA18530, NA18959, HG00115, NA18616, NA18633, NA19067, NA18602, HG00693, NA18627, NA07346, NA18940, HG00589, NA18597, NA20798, HG01351, NA20795, NA18558, NA18547, HG01492, NA18960, NA18618, NA07048, NA11918, NA18582, NA18571, HG01083, HG00537, NA19079, NA18949, HG00158, HG00512, HG01069, NA20518, HG00335, HG00534, NA19722, NA18990, HG01048, NA18985, HG01550, HG00253, NA19789, NA18539, HG01124, NA18951, NA20800, HG00443, NA18538, HG01171, NA19070, NA19056, HG00557, NA19663, HG00556, HG00583, NA19081, HG00275, NA18579, NA12718, NA18534, NA18981, HG00692, NA19064, NA18548, HG00740, NA18537, HG01047, NA18573, HG00651, HG00250, NA19084, NA18626, HG00690, HG00404, HG00531, HG00479, NA12829, HG00684, NA18553, NA19009, NA18555, HG00152, NA18963, HG00704, NA19682, HG00463, HG00246, NA18541, NA19012, NA18974, NA18953, HG00258, HG00611, NA18632, NA19652, HG00625, HG00353, NA18628, NA19072, NA19010, HG01357, HG01174, HG00473, NA20792, NA19679, NA19083, NA18943, HG00662, HG00418, NA18615, HG01489, HG00620, HG00614, HG00478, NA19785, NA18631, NA18636, NA18609, NA20786, NA19770, NA11843, NA19080, NA19780, NA19900, NA18983, HG00595, NA18989, HG01125, HG00628, NA18968, NA18623, NA20585, NA19063, NA19065, NA18612, HG00581, NA18577, NA19676, NA18620, HG00626, HG00403, HG00592, HG01356, NA19055, HG00536, NA18592, HG01359, HG01079, NA18599, NA18603, HG00318, HG00699, NA18545, NA19057, NA18596, HG01456, HG00566, NA18526, NA12155, NA12413, NA18967, HG01250, NA19076, NA20796, NA19005, NA18944, NA18550, HG01070, HG00501, NA19728, NA18595, HG01488, HG00689, HG00448, NA18982, NA18635, NA20317, NA18619, HG00634, NA18942, HG00610, HG00346, NA12283, HG01354, NA19088, NA19054, NA19681, NA18964, HG00590, NA18611, HG00683, HG00236, NA18977, NA19719, NA18560, NA18617, HG00422, NA18986, NA19087, NA12889, HG01440, HG00427, HG00338, NA12828, NA18975, NA18973, HG00530, HG00419, NA18638, HG00464, NA20818, NA18614, HG00543, HG00313, HG01136, HG00560, NA18613, HG00629, NA19657, NA19082, HG01187, HG00596, HG00328, NA19077, HG00428, HG00190, NA20809, HG00653, HG00577, HG00701, HG00475, HG00436, HG00584, HG00533, HG00500, NA19658, NA18976, NA20770, NA18630, HG00619, NA19776, HG00708, HG00635, NA18566, NA20299, NA19000, NA19655, HG00373, NA11894, NA12249, HG00613, HG00525, NA18536, NA18634, HG01204, NA18576, NA18546, NA18608, HG00476, NA18961, NA18543, NA18559, NA19749, NA18950, HG00136, NA18941, NA19773, HG01494, NA19085, HG00269, NA19759, NA19078, HG00707, HG00672, HG00111, HG00578, NA18971, HG01491, NA19060, HG00421, NA18987, HG01055, NA20807, HG00698, NA18972, NA18552, HG01251, NA18984, HG00472, NA07056, NA19755, NA19004, NA18549, HG00437, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2673981
Frequency
Sample Size1151
Observed Gain0
Observed Loss314
Observed Complex0
Frequencyn/a


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