A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675148



Internal ID9941253
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:141791950..141792183hg38UCSC Ensembl
chr7:141491750..141491983hg19UCSC Ensembl
Cytoband7q34
Allele length
AssemblyAllele length
hg38234
hg19234
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5439490, essv6425646, essv5548072, essv5579014, essv5687654, essv6248861, essv6271957, essv6506959, essv5875276, essv5670614, essv6180956, essv6308120, essv5555467, essv6034789, essv6215851, essv6512673, essv6556327, essv5857573, essv6552189, essv6210231, essv6257056, essv6103760, essv6518757, essv6096957, essv6475103, essv6155043, essv6363629, essv5645940, essv6377410, essv5887572, essv6215301, essv6253014, essv6071958, essv6062427, essv5685146, essv6564532, essv5846370, essv6287919, essv5456720, essv5714722, essv5516157, essv5898731, essv5818905, essv5727504, essv6492624, essv6527949, essv6351455, essv5740203, essv5572178, essv6430023, essv5664812, essv6541630, essv5652465, essv6415076, essv6038023, essv6537986, essv5850258, essv6554656, essv6376186, essv5679898, essv6164026, essv5869056, essv5533568, essv6183044, essv5808583, essv5420484, essv6339462, essv5441796, essv5975849, essv6188363, essv5746285, essv6074337, essv6561959, essv5431407, essv6539169, essv6570016, essv5810233, essv6251091, essv6131174, essv5616268, essv6555583, essv5797598, essv6455896, essv5704301, essv5889497, essv6317127, essv6471148, essv6267581, essv6550824, essv6147269, essv6135528, essv5933152, essv6380086, essv6456438, essv6534212, essv6250415, essv5404142, essv5417696, essv6244279, essv6119012, essv5564775, essv6578462, essv5737875, essv5851710, essv6103127, essv5888662, essv5831466, essv5855490, essv5844117, essv6416575, essv5502705, essv5715667, essv6229915, essv5838411, essv6444349, essv6108105, essv5715013, essv6413018, essv6090741, essv6464931, essv5966758, essv5861035, essv6472204, essv5542467, essv6123353, essv6323682, essv6516165, essv5808013, essv6462220, essv5691074, essv5578470, essv5685297, essv6489869, essv5537633, essv5891468, essv5797195, essv5700969, essv6010049, essv5408407, essv6332348, essv6285719, essv6480044, essv5710348, essv6378805, essv5536053, essv5893974, essv5468173, essv6002414, essv5683985, essv5611235, essv5539649, essv6221285, essv6204122, essv5458741, essv5588761, essv5759064, essv5742818, essv5952219, essv5612982, essv5469136, essv6576401, essv6309524, essv5788576, essv5498301, essv6030918, essv6237296, essv6263999, essv6446418, essv6424660, essv5445598, essv5633907, essv6585397, essv5595515, essv6072240, essv6317971, essv5803634, essv5751928, essv5844127, essv5516660, essv5650006, essv6298200, essv5626232, essv5493943, essv6308227, essv5588055, essv5790065, essv6204480, essv6165916, essv6228591, essv6228297, essv6160331, essv5660332, essv5904638, essv5639119, essv5569045, essv6062725, essv5604091, essv6247465, essv6562314, essv6129477, essv6267898, essv5753791, essv6345774, essv6172479, essv5895982, essv5504836, essv6127245, essv5811251, essv6257349, essv6197643, essv6502918, essv6263709, essv5957959, essv6362798, essv5917921, essv5984455, essv6548423, essv6527088, essv5674743, essv6024470, essv5666771, essv5587953, essv5493254, essv6126256, essv5581960, essv6484708, essv6174151, essv6139926, essv5573751, essv5445747, essv6065740, essv5877818, essv5612197, essv5838944, essv6558442, essv5483677, essv5653575, essv5570610, essv5795527, essv6422353, essv6336212, essv5648629, essv6165136, essv5808218, essv5459662, essv6309612, essv5618297, essv5581813, essv6084202, essv5932130, essv6340594, essv6125142, essv5668355, essv6422996, essv6419605, essv5948049, essv5831898, essv5750725, essv6531275, essv6394316, essv6256657, essv6184780, essv5882352, essv6081543, essv6146296, essv5673897, essv6409471, essv5833692, essv6333640, essv6255659, essv6277545, essv6272185, essv5671611, essv6480643, essv6079837, essv6429291, essv5489821, essv6338636, essv6209993, essv6007668, essv5488905, essv5737767, essv6046959, essv6432177, essv5866826, essv6145815, essv6205844, essv6303423, essv5709622, essv6057952, essv5882195, essv5940192, essv6225880, essv6404270, essv5524588, essv6556430, essv5761409, essv5726821, essv5684091, essv6149772, essv5453997, essv5403719, essv5655483, essv6390258, essv5751057, essv5910946, essv5623372, essv5931683, essv6329180, essv6105466, essv5750721, essv5396161, essv6453015, essv5839624, essv6344954, essv6505781, essv6438158
SamplesNA18502, NA19701, HG00650, HG00542, HG00442, NA19058, HG01462, HG00608, NA18621, NA19664, HG00671, NA10851, NA18565, HG00257, HG01066, NA20816, NA20802, NA19355, NA12340, NA19684, NA18530, NA18959, HG00449, HG00654, HG01051, NA19920, NA18633, HG00261, NA18602, NA18988, HG00337, HG00663, NA07346, NA18563, HG00138, HG01350, NA19379, NA18940, HG00589, NA18597, NA19678, HG01167, NA18558, NA18547, HG01492, NA18582, NA18571, HG00537, HG00158, HG00512, HG00281, HG01069, HG01080, NA20278, HG00335, NA18868, NA12044, HG00705, NA19722, NA18990, NA19239, NA18557, HG01048, HG00326, HG00253, NA20515, NA19789, NA20755, HG00154, NA18951, HG00443, HG00268, HG01171, HG00380, HG00282, HG00657, NA19717, HG00556, HG00583, HG00275, NA18579, NA18572, NA18948, NA18534, HG00692, NA18548, HG00740, NA18537, HG01047, NA19654, HG00324, HG00284, NA19461, NA11919, HG00651, HG00690, HG00531, HG00479, NA12829, HG00331, HG00684, NA19750, NA18532, HG00140, NA19761, NA18555, NA19452, HG00704, HG00463, HG00246, NA19395, NA18593, HG01107, HG01075, NA12043, NA18953, NA19729, NA18632, NA19652, HG00254, NA19147, NA18564, NA19747, HG00353, HG00580, NA20527, HG00473, NA19679, NA19311, NA19360, HG00662, HG00418, NA18615, NA18610, HG01342, HG00620, HG00614, HG00513, HG00478, NA19785, NA19779, HG00342, NA18636, NA18609, HG00310, NA19770, HG00280, HG00274, NA20503, HG01111, NA18623, NA19063, NA12154, NA18612, NA19429, HG01437, HG00553, HG00581, NA18577, NA19676, HG00096, HG01060, HG01441, NA19648, NA11830, HG01356, HG00536, NA19397, HG00249, NA18592, HG00524, HG01079, NA18561, NA18599, HG01389, HG01374, NA18603, NA12045, HG00367, HG00318, HG00699, NA18545, NA19777, NA18596, NA18606, NA18526, NA07357, NA19746, NA18550, HG00501, NA19382, NA19762, NA19728, NA18595, HG01488, HG00702, HG00689, HG00448, NA20586, NA19723, NA18635, HG00330, HG00634, NA11992, HG00346, HG01354, NA20540, NA19771, NA19138, NA19782, NA18964, NA18611, HG00277, NA12005, NA19651, HG01067, HG00683, HG01170, HG00236, NA18977, NA19719, HG01072, NA20340, NA19731, NA18617, HG00422, HG01176, NA12889, HG01440, NA19002, HG00427, NA19725, HG00159, HG00530, HG00419, NA18638, NA11993, HG00108, HG00260, NA11831, HG01353, HG00543, HG01183, NA18544, NA18613, NA19657, HG01384, HG00328, HG00428, HG00701, NA19391, HG00475, NA19236, HG00436, HG00320, HG00584, HG00533, NA18637, HG00500, NA19788, NA20506, NA19776, HG00708, HG01073, NA19774, NA11894, HG00613, NA12827, NA19756, NA18536, HG01204, NA18576, NA18546, NA18608, NA19685, HG00476, NA18542, NA19108, NA18952, NA18543, NA18559, NA19749, HG00375, NA19732, HG00278, NA19773, HG00319, HG01108, HG00256, HG00125, NA19759, HG00707, HG00672, HG01491, HG00421, HG00656, HG00123, HG00698, HG00131, NA19726, NA18552, HG00372, HG00252, NA19661, HG01377, HG00472, NA18505, HG01378, NA19755, NA19758, NA18511, HG01097, NA18549, HG00180, NA18622, HG00437, NA18562
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675148
Frequency
Sample Size1151
Observed Gain0
Observed Loss317
Observed Complex0
Frequencyn/a


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