A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674475



Internal ID9593894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1028491..1029101hg38UCSC Ensembl
chr1:963871..964481hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5456064, essv6336428, essv6067524, essv6031648, essv6221043, essv5994815, essv5819196, essv5512746, essv6349109, essv5840741, essv6198018, essv6150676, essv6434262, essv6362474, essv6482402, essv5987847, essv6022508, essv5607185, essv5885429, essv5597778, essv6337876, essv6204902, essv5717079, essv6347242, essv6123918, essv5824591, essv5912544, essv6418029, essv5789270, essv6027655, essv6432453, essv5552270, essv6510320, essv6001928, essv5821062, essv5987883, essv6147838, essv6460718, essv6572780, essv6352021, essv6535245, essv6332345, essv5765836, essv5596252, essv6452440, essv6293236, essv5775808, essv5586667, essv5600714, essv6168477, essv5544079, essv6463649, essv5607932, essv5515175, essv5803925, essv5464919, essv6301862, essv5655999, essv6467904, essv6262010, essv5700798, essv6559100, essv6215092, essv5579307, essv5980381, essv6504358, essv5574524, essv5614201, essv5729992, essv5722499, essv6018657, essv5718506, essv5657075, essv6029294, essv6048979, essv6493518, essv6425065, essv6211448, essv6479044, essv6338714, essv6241223, essv5543982, essv6070502, essv5992380, essv6175781, essv5763678, essv5441289, essv5533171, essv6054853, essv5915311, essv6573154, essv6320707, essv6584245, essv6043080, essv6273537, essv6275093, essv5870935, essv5782186, essv6154985, essv6498080, essv5700942, essv6177663, essv5462103, essv6412237, essv5978321, essv5734294, essv5443079, essv6178153, essv6510454, essv5578565, essv6412469, essv5829646, essv6019519, essv6261633, essv6427750, essv5519265, essv5629256, essv5750218, essv6510298, essv6424714, essv6197707, essv5672078, essv6471857, essv6054536, essv5670392, essv5916857, essv5397305, essv5758458, essv5448884, essv6152898, essv5977948, essv5766055, essv6229256, essv6283772, essv6596508, essv6462535, essv5589591, essv6183968, essv5759307, essv5613816, essv5929362, essv5666985, essv5534660, essv6339703, essv6579614, essv6117995, essv5680961, essv5515257, essv6512480, essv5674953, essv5795116, essv5601728, essv6096713, essv5809115, essv6000145, essv5509723, essv6368059, essv6461713, essv6239917, essv5484641, essv6192230, essv6069837, essv6071729, essv6401814, essv6371427, essv6286261, essv6450578, essv6445789, essv6158394, essv6051709, essv6030509, essv5793300, essv5615962, essv6474371, essv6261205, essv6032236, essv6269485, essv5929634, essv6453590, essv5694805, essv5993590, essv5885638, essv6386003, essv5771704, essv5493240, essv6212079, essv5466613, essv6243124, essv5964725, essv6197367, essv5438152, essv5770283, essv6461709, essv6379238, essv5942233, essv5525377, essv5714107, essv5460067, essv5491037, essv5741053, essv6016807, essv6085598, essv6105732, essv5958628, essv6168761, essv6325568, essv5819882, essv5620395, essv5870748, essv5853566
SamplesHG00323, NA12718, NA19445, HG00537, HG00734, HG01359, HG01518, NA18861, HG00252, HG00607, NA18616, NA19904, HG01250, HG01353, NA18530, HG01052, NA12342, HG00328, NA20752, NA20516, HG00500, NA20510, HG00274, HG00731, HG00245, NA20796, HG00565, HG00736, NA20508, NA20531, HG00160, HG00449, NA20346, HG00310, NA18570, NA19003, NA06989, NA18545, HG01389, HG00463, HG01197, HG00614, HG01365, NA20808, NA19453, HG01082, NA19451, NA18947, HG00375, HG00173, HG00326, NA18573, NA20778, NA18542, HG01350, NA20539, NA19834, HG00581, HG00187, HG01461, NA19648, HG00280, HG01134, HG00366, HG00146, NA19355, HG00319, NA19084, HG00253, HG00699, NA19780, NA18557, HG01551, NA18950, HG00353, HG00247, HG00554, HG01133, NA18632, HG00342, NA19077, NA20532, NA19463, HG01148, NA20585, HG00242, NA11919, NA12763, NA18912, NA19982, HG00250, HG01456, NA19076, HG01375, NA18566, NA11994, NA19057, NA18536, HG00140, NA18576, HG00180, NA19197, NA19471, HG01048, NA19722, HG01061, NA20530, HG00231, NA20783, HG01047, HG01124, NA18592, NA18856, HG00419, HG00125, NA19075, NA11995, HG00276, NA12777, HG00357, HG00237, NA19082, NA19316, NA19055, NA19676, HG00306, HG00159, HG01437, HG00124, HG00108, NA20291, NA19703, HG00268, HG00640, NA19375, HG00732, HG00325, NA12348, HG00185, NA06986, HG00273, HG00116, HG00277, NA19347, HG00740, NA18613, NA20582, HG00534, HG01070, NA19707, NA20766, HG00246, NA12283, NA19462, HG00151, NA18619, NA18987, NA18582, NA18999, NA20525, HG00590, NA20756, HG00443, NA19723, NA19078, HG01334, NA20276, NA20799, NA06984, NA18565, HG00138, NA18989, HG00311, HG00608, NA18577, HG00654, HG01390, NA20513, NA11830, HG00123, HG00281, NA19327, NA12546, NA12842, HG01366, NA18571, NA19371, HG00708, NA18610, HG00367, HG00693, NA18611, HG00251, HG00275, HG00641, NA18549, HG01374, HG01522, HG00137, HG01489, NA19473, NA20517, HG00345, HG00702, HG00136, NA18980, HG01354, NA19439, HG00327, HG00361
Known GenesAGRN
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674475
Frequency
Sample Size1151
Observed Gain0
Observed Loss210
Observed Complex0
Frequencyn/a


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