A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662697



Internal ID9582116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54626600..54630293hg38UCSC Ensembl
chr1:55092273..55095966hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg383694
hg193694
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6073541, essv5641713, essv5513774, essv5962732, essv5782725, essv5596045, essv6470039, essv5682473, essv5396640, essv6072131, essv5562500, essv5412829, essv5499174, essv5413871, essv6421748, essv6112300, essv6356965, essv6509595, essv6376665, essv6298997, essv5753681, essv6148930, essv5632257, essv5404508, essv5972653, essv5657463, essv6485202, essv6199258, essv6315462, essv6212796, essv6206469, essv6069602, essv5448401, essv5764991, essv6557965, essv6150596, essv6288435, essv5479831, essv6066409, essv5655766, essv5569550, essv5716864, essv6074286, essv5823283, essv5623936, essv5541413, essv5467204, essv6029707, essv5510839, essv6306378, essv6509599, essv5673817, essv6377680, essv6100432, essv6299440, essv5647232, essv6251797, essv6002144, essv5859771, essv5500903, essv6283284, essv5884807, essv5511439, essv5422484, essv6152307, essv6569229, essv6042040, essv5905716, essv6235039, essv6118829, essv5483199, essv5957236, essv5478104, essv6367542, essv6516807, essv6012132, essv5682253, essv6505398, essv6307309, essv6259664, essv6241902, essv5463718, essv5834394, essv5814439, essv5577748, essv5757720, essv6080361, essv5787121, essv6180973, essv6018887, essv6370666, essv6247000, essv5876813, essv5406900, essv6550850, essv6577031, essv6489913, essv6144054, essv5555731, essv6516375, essv6469367, essv5593732, essv6067563, essv5424835, essv6270997, essv5775857, essv6518259, essv6028382, essv6075334, essv6425548, essv6061210, essv6381656, essv6198621, essv5804792, essv6596276, essv6493538, essv5845641, essv5606440, essv5999732, essv6156184, essv6145536, essv5948309, essv5429851, essv5473896, essv5450168, essv6431249, essv5755285, essv5719852, essv5443350, essv6448331, essv6363421, essv5746151, essv6434984, essv5850146, essv5494421, essv6386543, essv5985539, essv6446784, essv6029115, essv5971794, essv6191485, essv5690672, essv6070578, essv5794094, essv6271076, essv5799776, essv6048849, essv6243781, essv5640905, essv6379295, essv5843250, essv6459403, essv5948306, essv5530081, essv6010743, essv5553906, essv5864790, essv5656422, essv6301581, essv5977888, essv5583166, essv6569312, essv5455480, essv6369667, essv5730039, essv5519328, essv5579567, essv6416580, essv6430961, essv5536388, essv6180564, essv6000814, essv5823664, essv6433174, essv6218658, essv5980436, essv5899013, essv6324994, essv6090337, essv5983525, essv6312611, essv6403013, essv6396765, essv6200557, essv6571208, essv6551689, essv6041506, essv5704121, essv5665893, essv6181344, essv5877183, essv5752464, essv5566243, essv5932575, essv6118919, essv6149010, essv5570458, essv6113215, essv5671049, essv6103207, essv6105901, essv6477583, essv6363357, essv6085471, essv6532232, essv6326478, essv6452636, essv5839576, essv5717546, essv5414851, essv5919649, essv5677229, essv6476981, essv6345136, essv6345070, essv5768766, essv5816189, essv6149822, essv5700235, essv5541625, essv5505708, essv6309242, essv5848295, essv6286540, essv6517819, essv6370460, essv6121974, essv5676159, essv5636899, essv5574773, essv5905083, essv6053650, essv5890077, essv6390112, essv5625766, essv5881764, essv5441208, essv5531643, essv6090648, essv6453198, essv5725794, essv6154368, essv6261641, essv5948700, essv5765454, essv6157547, essv6182016, essv5500464, essv6420253, essv6369506, essv5617031, essv6165342, essv5551884, essv5766251, essv6254155, essv6566328, essv6464553, essv6147792, essv6202282, essv6508004, essv5987303, essv6541268, essv6313156, essv5864701, essv5823337, essv6557774, essv6131807, essv6229299, essv5594482, essv5515793, essv5504380, essv6441919, essv5458526, essv6390809, essv6485014, essv5884788, essv5972741, essv5426779, essv6484418, essv5492464, essv5572518, essv6064480, essv6468835, essv5999324, essv5594816, essv5867106, essv5917780, essv6182100, essv6482790, essv5421193, essv6084581, essv5713106, essv6072561, essv6314583, essv5479150, essv5405845, essv5948722, essv5835208, essv5491134, essv5653539, essv5456866, essv6253605, essv6556243, essv6229325, essv5656580, essv5626776, essv5525235, essv6394157, essv5497856, essv6017721, essv5713764, essv6527770, essv6032951, essv5935512, essv5896979, essv6489832, essv5624003, essv5401415, essv5935027, essv5931108, essv5783046, essv6398916, essv5738778, essv5423520, essv5579187, essv5701626, essv6104497, essv5610916, essv6156571, essv5692278, essv5549331, essv6105881, essv6240298, essv6527530, essv6225324, essv6240527, essv5956235, essv5620287, essv6150266, essv6003038, essv6363313, essv5842453, essv6454740, essv6050457, essv6048110, essv5785566, essv6148980, essv5400000, essv5831974, essv5765888, essv5939459, essv6056422, essv5676226, essv5653642, essv5921630, essv5898708, essv5653259, essv5521559, essv5417189, essv5491449, essv6254896, essv5440332, essv6116020, essv6096731, essv5401612, essv5798737, essv6126405, essv5700389, essv5572279, essv6272355, essv6149735, essv5744672, essv5521718, essv6563455, essv6277612, essv6227722, essv5563509, essv5761740, essv5920283, essv5566714, essv6439478, essv6074728, essv5607215, essv6438604, essv5736524, essv6479765, essv6439916, essv5545514, essv5787332, essv6562961, essv6215376, essv6242180, essv6102949
SamplesHG00650, NA19058, HG00143, NA19703, HG01462, HG00608, NA18621, HG00142, NA12286, NA19664, HG00671, NA19066, HG00242, NA10851, NA12414, NA11920, HG00257, HG01066, HG00151, NA18999, HG00233, NA20802, HG00244, HG00181, NA19684, NA18530, NA18959, HG00115, HG00449, HG01461, HG01051, NA18633, HG00261, NA12750, NA18602, HG01522, NA18988, HG00337, HG00271, NA19107, NA12813, NA07346, HG00138, HG01350, NA18940, HG00589, HG00122, NA18597, NA20798, NA19678, HG01168, NA18567, NA18558, NA18960, NA18618, NA19062, NA18574, NA07048, NA11918, NA07347, NA18582, HG00185, HG00537, NA18949, HG00158, NA11930, HG00281, HG00139, NA12275, HG01069, HG01080, HG00335, HG00148, NA12156, HG01519, HG00156, NA20812, HG00325, HG00232, NA11994, HG00534, HG00705, HG00160, HG00118, HG01198, NA18557, NA18985, HG01133, HG00326, HG00323, HG01550, NA20755, NA18539, NA19921, HG01124, HG00137, NA12777, HG00154, NA18951, NA18605, NA12489, HG00731, HG00443, HG00266, HG01171, NA19070, NA19056, HG00732, HG00657, HG00344, NA19081, HG01498, HG00263, NA18579, NA12718, NA18572, NA18948, NA18534, HG00551, HG00239, NA18981, NA19064, NA18548, HG00740, NA18907, NA18537, HG01047, HG01102, HG00324, NA18626, HG00690, HG00404, HG00479, HG00331, HG01101, HG00140, NA18553, HG01334, NA18555, NA18963, NA12778, NA18570, HG00126, NA18593, HG01107, NA19012, NA18953, HG01148, NA19003, NA18632, HG00254, HG00336, HG00265, HG00625, NA19712, NA18564, HG00353, NA18628, NA20815, NA19072, HG00580, HG00734, NA19010, HG01174, HG01375, HG01113, HG01137, NA12763, NA18615, HG00614, HG00513, NA18631, HG00259, HG00342, HG00267, NA18636, HG00310, NA20786, NA18873, HG00112, HG00280, NA19080, NA20826, NA18983, HG00377, HG00274, NA20503, HG00595, NA20502, NA18989, HG01125, HG00171, NA12006, NA19065, NA18612, HG01437, HG00581, NA18577, NA18620, HG00403, HG00114, NA11830, HG01521, HG01098, HG01356, NA20543, NA19055, HG00249, NA11995, HG00361, NA18592, HG01359, HG00187, HG01079, HG01188, NA20531, NA11933, HG01389, HG00306, NA18603, HG00367, HG00318, HG01465, HG00699, NA12004, NA18606, HG00179, NA18870, NA18526, NA12400, NA12155, NA07357, NA12341, HG00327, NA18967, NA19068, NA19660, NA19076, NA19005, NA18944, NA18550, HG01366, HG01070, HG00251, NA18595, HG00448, HG00173, NA18982, NA18619, NA12891, HG00330, NA12348, NA18942, NA11992, HG00346, NA12283, HG00247, NA19054, NA20513, HG01110, HG00590, NA20541, HG01134, HG00277, HG01067, HG00683, NA18874, HG00236, NA18977, HG01072, NA18560, NA19075, HG01176, NA19087, HG01440, NA19725, NA18520, HG00637, HG00338, HG00159, NA18975, NA18908, NA18973, HG00419, HG00264, HG00108, NA18614, NA11831, HG01353, HG00313, HG01183, HG00149, NA18613, HG00629, HG01360, HG00183, HG00176, HG01187, HG00145, HG00328, NA19077, NA12003, HG00428, NA20809, HG00653, HG00577, HG00701, HG01515, HG00436, HG00320, HG00584, HG00533, NA18637, NA19788, NA20506, NA18976, NA18630, HG00619, HG00708, HG01390, NA18566, HG01094, HG01073, NA19655, HG00373, NA11894, NA12249, HG01383, HG01182, HG00117, HG00525, NA12827, HG00276, NA20828, HG00141, NA18536, NA20534, NA19675, NA18945, HG01204, NA18576, NA18608, HG00124, NA20773, NA18542, NA12716, HG00119, NA18535, NA18961, NA18950, HG00375, HG00136, NA20804, NA07051, NA20785, HG01494, NA20803, HG00256, NA19085, NA06986, HG00269, HG00125, HG00578, HG01491, HG00329, NA18987, NA12749, HG01254, HG00123, NA12830, NA20807, HG00698, NA19726, NA18972, HG00343, HG01251, HG00372, HG00252, NA18984, HG00472, NA07056, NA18505, HG01378, NA19004, HG01082, NA07000, HG01097, HG00554, HG01191, HG00180, NA18622, HG01061, HG00437
Known GenesACOT11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662697
Frequency
Sample Size1151
Observed Gain0
Observed Loss393
Observed Complex0
Frequencyn/a


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