A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661943



Internal ID9928048
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:65558490..65564584hg38UCSC Ensembl
chr1:66024173..66030267hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386095
hg196095
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5747520, essv5417421, essv6204331, essv5865530, essv5611886, essv5408681, essv5864101, essv6121880, essv5413983, essv5961444, essv5689267, essv5856702, essv5565023, essv5824708, essv5608719, essv6055879, essv5895416, essv6550535, essv6239287, essv6543258, essv5533425, essv6561641, essv6323889, essv6142044, essv6266970, essv6534989, essv5818241, essv5553975, essv6045814, essv6533669, essv5599721, essv6210398, essv5770215, essv5726651, essv6433448, essv6407373, essv6320628, essv6511833, essv6252334, essv6161778, essv5692837, essv6555341, essv5582220, essv6033812, essv6340319, essv6236803, essv6497708, essv6146686, essv6486434, essv6123081, essv6410847, essv6213186, essv6132919, essv5930378, essv6161857, essv5734178, essv6283027, essv5938437, essv5894823, essv5766056, essv6463856, essv6027429, essv6529969, essv6264171, essv5549108, essv6083228, essv5690056, essv5444208, essv5668782, essv6174161, essv5601602, essv5660212, essv6303343, essv5927483, essv5767320, essv6329924, essv5651327, essv6036019, essv6515901, essv5862397, essv6433587, essv6140338, essv5609094, essv5729844, essv5662614, essv5593821, essv5904478, essv5760571, essv5760250, essv5717223, essv5431510, essv5396168, essv6387895, essv6097858, essv6173221, essv5427584, essv6074550, essv6014995, essv5887005, essv5895376, essv5844356, essv5912352, essv5832024, essv6249592, essv6546586, essv6216174, essv6396918, essv6413364, essv5763177, essv6576867, essv6020759, essv5678247, essv6398373, essv5650993, essv6543802, essv6355395, essv6055937, essv6578937, essv5924030, essv6551086, essv5422828, essv6309325, essv6159743, essv5991164, essv5958786, essv5719030, essv6065069, essv6489156, essv6171266, essv5830963, essv6260500, essv5806233, essv6178001, essv5816522, essv5733157, essv5957238, essv5850225, essv5508726, essv6134547, essv6267926, essv6016165, essv5736070, essv5853878, essv6290978, essv6181793, essv5862557, essv6463320, essv5927400, essv6402046, essv6340172, essv5838926, essv6301824, essv5782542, essv5705966, essv6499974, essv5502820, essv5935126, essv6584097, essv5612997, essv6061412, essv5456451, essv5921483, essv6318327, essv6362160, essv5725360, essv5472331, essv5421841, essv5888454, essv6373028, essv6401515, essv5545655, essv6317341, essv6084511, essv6060011, essv5915582, essv5565673, essv6246704, essv5826639, essv5973418, essv5799330, essv6350486, essv6186090, essv6231468, essv6112764, essv6340410, essv5868415, essv6030796, essv6168345, essv5911724, essv5520102, essv6420821, essv6088086, essv5779282, essv5907196, essv6259588, essv5734697, essv6341779, essv5768733, essv5655714, essv6023706, essv5835234, essv5997934, essv6293089, essv5954163, essv5775116, essv5864217, essv5714507, essv5632414, essv5511765, essv5408505, essv6333805, essv6320251, essv5688413, essv6343983, essv6256692, essv6159775, essv6008224, essv5935395, essv5932791, essv6560135, essv5610362, essv6300075, essv5661552, essv5843772, essv6060975, essv6352658, essv5671160, essv5481126, essv6127519, essv6280034, essv6537847, essv6199152, essv5989046, essv5462540, essv6581799, essv6187605, essv6260607, essv5803306, essv5617733, essv6427135, essv6089048, essv6541434, essv6395604, essv6549087, essv6496734, essv5994361, essv5738777, essv5941845, essv5880143, essv5938868, essv6295169, essv6210997, essv5706697, essv5978356, essv6348463, essv6046451, essv5919576, essv5477770, essv6425468, essv5930621, essv5797200, essv5550190, essv6142195, essv5645559, essv6488507, essv5487752, essv5462024, essv5811018, essv5861997, essv5763246, essv6134527, essv6185113, essv5613061, essv6561177, essv6523983, essv6518063, essv6329648, essv6294795, essv5774584, essv5885885, essv5672276, essv5780822, essv6047925, essv6135445, essv6067314, essv5457976, essv5921199, essv5455559, essv6156016, essv5725063, essv5535060, essv6102449, essv6158297, essv5833479, essv5931085, essv5808026, essv5539900, essv6283887, essv5518754, essv5483099, essv6154219, essv6290817, essv6129835, essv5459659
SamplesNA19394, NA18502, HG00189, NA19701, NA20761, HG01173, NA20529, NA19909, NA18947, NA19066, NA19204, NA20783, NA11920, HG01066, NA20816, NA20512, NA12751, NA20294, HG00737, HG01518, NA19443, NA19920, NA18510, NA20806, HG00337, NA19107, NA12813, NA19171, NA18940, HG00589, HG00272, HG00122, NA18597, NA20798, HG01351, HG01177, HG01168, NA20756, NA18960, NA18916, NA11918, NA20287, HG00185, NA19130, NA18949, NA11930, HG00281, NA12275, HG01080, NA20518, HG00335, NA12156, NA20812, NA19372, NA12044, NA19207, NA19172, HG00160, HG00118, NA19239, NA18985, HG01133, NA20342, NA20757, HG00323, NA18867, HG00253, NA20515, NA19789, NA19921, NA12777, NA20535, HG00268, HG00266, NA19056, NA19670, NA12878, HG00732, NA19455, HG00275, NA18579, NA20519, NA18572, NA18534, HG00239, NA18981, HG00692, NA18548, NA18907, HG00284, NA19461, HG00250, HG00331, NA06989, HG00140, NA19761, HG00152, HG00146, NA19452, NA18523, NA19469, NA19318, NA12778, HG00246, NA19395, HG00126, NA19625, NA18593, HG01107, NA12043, HG01148, NA20799, NA19652, HG00254, HG00336, HG00353, NA20815, NA19331, NA20520, NA19010, HG01174, NA19470, NA19083, NA19360, NA12763, NA18501, NA06994, NA19223, HG00342, NA19716, NA19468, NA19093, NA20510, NA18609, NA20786, NA19102, NA18873, HG00280, NA20826, NA19711, HG00377, NA20503, NA20502, NA19129, NA19316, NA19312, NA12890, NA19463, NA19063, NA12154, NA20754, NA19429, NA18487, HG01437, HG00553, NA20772, NA19676, HG01060, NA19648, HG00249, HG01359, HG01052, HG00187, HG01079, NA11933, HG00306, NA20813, NA19092, NA19819, NA19393, NA12004, NA18596, HG00179, HG00177, NA20507, NA18870, NA12155, HG00127, HG01070, HG00251, NA18489, NA20586, NA18982, NA12891, NA19916, HG00330, NA11992, NA12283, HG01354, NA19313, HG00369, NA18498, NA20336, NA20541, NA12282, HG00277, NA12005, NA19651, HG01067, NA19383, HG00683, NA18874, NA06984, NA19719, HG01072, NA18560, NA12889, HG01440, NA20811, NA19901, NA19189, HG00338, NA19456, NA20533, NA18973, HG00260, NA10847, HG00313, HG00188, NA19247, NA19210, NA19437, HG00176, NA19707, NA18934, HG01384, HG00328, NA20505, NA12003, NA19347, NA19152, NA20536, NA19391, NA19327, NA18516, NA19982, NA20126, NA18910, NA18976, HG01390, HG01094, HG01073, NA19114, NA19655, HG00373, HG01197, NA18499, NA11894, NA12892, HG00321, NA20282, NA19338, HG00276, HG00141, NA19160, NA20542, NA20534, NA18945, HG01204, NA20765, NA18546, NA18608, NA19401, NA20522, NA12716, NA11881, NA19321, NA19108, NA12775, HG00366, NA19435, HG00278, NA20785, NA12046, NA19334, HG00319, NA20516, HG01108, NA20803, NA20797, NA19818, HG00672, HG00312, NA20582, NA19472, NA12749, NA19713, HG00123, HG00186, NA20807, NA19726, NA18972, HG00343, NA20528, HG00372, HG00252, HG00472, NA07056, NA18505, NA18488, HG00345, NA18511, HG00180, NA12776
Known GenesLEPR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661943
Frequency
Sample Size1151
Observed Gain0
Observed Loss304
Observed Complex0
Frequencyn/a


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