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 Variantsessv5948700, essv5545514, essv6148930, essv5717546, essv5766251, essv6251797, essv5848295, essv6489913, essv6073541, essv6464553, essv6489832, essv5405845, essv6229299, essv5713764, essv6272355, essv5656580, essv6441919, essv6307309, essv5983525, essv6394157, essv5787121, essv5845641, essv6298997, essv6181344, essv6286540, essv5626776, essv5448401, essv6438604, essv6516807, essv5919649, essv5700235, essv6227722, essv5455480, essv6261641, essv6104497, essv6551689, essv5842453, essv6569312, essv6235039, essv6149822, essv5494421, essv5647232, essv6299440, essv5877183, essv6324994, essv5583166, essv5980436, essv6398916, essv6150266, essv6416580, essv6242180, essv5785566, essv6118829, essv6493538, essv5676159, essv6562961, essv5730039, essv6149735, essv6390809, essv6070578, essv6505398, essv6103207, essv5441208, essv6345136, essv5422484, essv6247000, essv5620287, essv5682253, essv5999324, essv6469367, essv6541268, essv5421193, essv5719852, essv6439916, essv6446784, essv5497856, essv6301581, essv6003038, essv5473896, essv6577031, essv5657463, essv5401612, essv5864701, essv6042040, essv6363421, essv6363357, essv5536388, essv5736524, essv5935512, essv5572279, essv5701626, essv5440332, essv5783046, essv6479765, essv6431249, essv5948309, essv5713106, essv5463718, essv5404508, essv5417189, essv6150596, essv5972741, essv6200557, essv5864790, essv5423520, essv5653642, essv5746151, essv6482790, essv5671049, essv5757720, essv5816189, essv5905716, essv5553906, essv6182016, essv5515793, essv5823283, essv6000814, essv6116020, essv6225324, essv5594816, essv5921630, essv6403013, essv6569229, essv5935027, essv6202282, essv5566714, essv5655766, essv6165342, essv6509595, essv6396765, essv6557774, essv5610916, essv5804792, essv5948306, essv6182100, essv5511439, essv5884788, essv6556243, essv5541413, essv5665893, essv6566328, essv5530081, essv5899013, essv5999732, essv6259664, essv6485014, essv5521559, essv5549331, essv5676226, essv5917780, essv6131807, essv5412829, essv5753681, essv6306378, essv5458526, essv6477583, essv5562500, essv5682473, essv6105881, essv5636899, essv6085471, essv6152307, essv5738778, essv6080361, essv5531643, essv6100432, essv5765454, essv6017721, essv5551884, essv5429851, essv6050457, essv6053650, essv6229325, essv6253605, essv6421748, essv6145536, essv6532232, essv6118919, essv6075334, essv6206469, essv6434984, essv5593732, essv5794094, essv5839576, essv6112300, essv6243781, essv5775857, essv5725794, essv6517819, essv6376665, essv6452636, essv6563455, essv5491449, essv5606440, essv6241902, essv5814439, essv6270997, essv6468835, essv6029707, essv5563509, essv5765888, essv5799776, essv5782725, essv6032951, essv6180973, essv5566243, essv5905083, essv5700389, essv5579567, essv5424835, essv5704121, essv5623936, essv6069602, essv6126405, essv5510839, essv6369667, essv6596276, essv6121974, essv5823664, essv6157547, essv6105901, essv6149010, essv6367542, essv6448331, essv6370460, essv6002144, essv6156571, essv6377680, essv5931108, essv6470039, essv5625766, essv6484418, essv6550850, essv6369506, essv5632257, essv5962732, essv6459403, essv5787332, essv5932575, essv6518259, essv5653539, essv6277612, essv6314583, essv5401415, essv5823337, essv5843250, essv5513774, essv5835208, essv5939459, essv6066409, essv6240527, essv6476981, essv5406900, essv5876813, essv5898708, essv6271076, essv6454740, essv5491134, essv5971794, essv6074728, essv6370666, essv5500903, essv5755285, essv5479831, essv5920283, essv6018887, essv5690672, essv6113215, essv6144054, essv5640905, essv6148980, essv6309242, essv6453198, essv5456866, essv5467204, essv6072131, essv6064480, essv5579187, essv6313156, essv6061210, essv6283284, essv5761740, essv5569550, essv5850146, essv6198621, essv6420253, essv5555731, essv5890077, essv5519328, essv6326478, essv6041506, essv5977888, essv5985539, essv5500464, essv5744672, essv6363313, essv6557965, essv6379295, essv5574773, essv5653259, essv6102949, essv6254155, essv5525235, essv5596045, essv6154368, essv5413871, essv5831974, essv6571208, essv5577748, essv6312611, essv6067563, essv5624003, essv5884807, essv6254896, essv5499174, essv5521718, essv6029115, essv6425548, essv6090337, essv5492464, essv5692278, essv5617031, essv5972653, essv6084581, essv6199258, essv6012132, essv6048110, essv6433174, essv6180564, essv6527530, essv6072561, essv5450168, essv5673817, essv5987303, essv6288435, essv5479150, essv6074286, essv5677229, essv5443350, essv6240298, essv6090648, essv6516375, essv6212796, essv6430961, essv5483199, essv6048849, essv5594482, essv6527770, essv5956235, essv5834394, essv5752464, essv5867106, essv5400000, essv5716864, essv5859771, essv6028382, essv6381656, essv6485202, essv6509599, essv5414851, essv5948722, essv6439478, essv6218658, essv5896979, essv5764991, essv5478104, essv6147792, essv5504380, essv5798737, essv5570458, essv5396640, essv5768766, essv6096731, essv6345070, essv6386543, essv6215376, essv5505708, essv5641713, essv5426779, essv6390112, essv5881764, essv5607215, essv5656422, essv6191485, essv6315462, essv5957236, essv6508004, essv5541625, essv5572518, essv6010743, essv6356965, essv6056422, essv6156184
SamplesNA19012, NA18621, NA18870, NA12489, HG00537, HG00252, NA18605, HG01440, NA07347, NA19712, HG00257, NA18520, NA18595, NA18951, HG00619, NA18534, HG01353, NA18530, NA18535, NA18630, HG01519, NA12286, NA19081, HG00551, HG00328, HG00705, HG00437, NA11920, HG00171, HG00112, HG00274, NA18526, NA20531, HG00160, NA11918, HG01079, NA18603, HG01389, HG00657, HG00614, HG01051, HG00577, NA19788, HG01082, NA18953, HG00428, HG01174, HG00148, HG01350, HG00139, HG00683, HG00698, HG00581, NA18963, HG00187, HG00404, NA07051, HG00280, HG00335, HG01101, HG01134, HG01168, NA20798, HG00699, NA18505, NA18557, NA20755, NA20803, HG00156, NA18950, HG01171, HG00353, NA18628, NA18949, HG00269, HG00554, NA12414, NA19077, HG01107, NA19062, HG01550, HG00158, HG01148, HG00242, NA12763, NA19085, HG00346, NA18967, NA19076, HG01375, NA12004, HG01378, NA18536, NA19675, NA18622, HG00259, NA19107, HG01061, HG01183, NA18636, HG01124, NA18592, HG00149, HG00338, NA18959, HG00533, HG00125, HG01360, NA11831, NA11894, NA12400, NA18637, NA19075, NA11995, NA18593, HG00276, HG01187, NA12777, HG00343, HG00584, NA19684, NA18539, NA20773, HG00114, NA12006, NA19055, HG00306, HG00373, HG00436, NA19725, HG00159, HG00267, HG01437, NA19080, HG00124, HG01097, NA07346, HG00108, NA12716, NA18537, NA18620, HG01465, HG00233, NA18633, HG00653, HG01191, NA18572, NA19703, HG01066, HG00732, NA12778, HG00325, HG00629, NA12348, HG00185, NA20826, HG00263, NA06986, NA12275, NA19005, HG00176, HG01073, NA18558, NA18977, HG00239, NA19664, HG00265, HG00232, HG01069, HG01176, HG01356, HG00249, NA18564, NA18942, NA18961, HG00277, NA20828, HG01080, NA20815, HG00740, NA18613, HG00513, HG01494, NA18988, HG00329, HG00534, HG01070, HG00525, NA12283, HG01383, HG00377, NA18579, NA18985, HG00236, HG00589, NA18945, NA18606, NA18940, HG00151, HG01094, NA12891, NA18619, NA18987, NA10851, NA18582, NA18999, HG01137, NA18597, NA19921, HG00590, HG00595, NA20534, NA18983, HG00443, NA18907, HG00181, NA18567, HG01334, NA12749, HG00650, HG00138, NA12156, NA18631, NA18560, NA18989, HG00580, HG00118, HG00448, NA18602, HG00608, NA18577, HG01390, NA18614, NA20513, NA18548, NA11830, NA11992, NA12003, NA19064, HG00123, HG00281, NA18944, NA20812, NA19655, HG00142, HG01366, NA20543, HG00708, HG01251, NA19070, HG00367, NA18984, HG01125, HG00251, HG00119, HG00320, HG01498, HG00324, HG00625, HG00690, NA18574, HG00183, HG01522, NA18981, HG00137, HG01102, HG01462, NA18908, NA20804, NA18615, HG00143, HG01110, HG00336, NA20502, HG00671, NA19087, NA18555, HG00271, HG00136, NA19065, HG00126, NA07000, NA19058, HG01067, NA18553, HG00327, HG00361, HG01198, HG00323, NA12827, HG01515, NA12718, HG00313, HG00734, HG01359, NA12249, HG00318, NA12750, NA11930, NA20809, NA20503, HG00344, HG01072, NA20785, NA20506, NA18975, HG00145, NA07056, NA18874, NA18612, HG00731, HG00449, HG00310, NA18550, NA18570, NA19003, NA19072, HG00261, HG01098, NA20802, NA18948, NA12813, HG00117, NA18972, NA19010, HG00375, HG00173, HG00326, HG01491, NA18608, NA20786, NA18542, HG01182, HG00122, HG00701, HG01188, HG01204, HG01461, NA19004, NA19678, HG00578, HG00331, NA12341, NA18873, NA18626, HG00479, HG00247, HG01133, HG01521, HG00256, NA18632, HG00342, HG00244, HG00266, HG00115, HG00154, HG01254, NA19726, HG00179, NA19054, HG00472, NA18566, HG00337, NA11994, NA19068, NA19660, HG00140, NA12155, NA18576, NA18960, HG00180, NA18618, NA07357, HG00372, HG01047, NA20807, HG00141, HG00330, NA07048, NA19066, NA11933, NA20541, HG00419, NA18976, HG01113, NA18973, HG00264, HG00637, NA18982, HG00254, NA19056, HG00403, NA12830
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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