A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662205



Internal ID9581624
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:42628209..42630888hg38UCSC Ensembl
chr5:42628311..42630990hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg382680
hg192680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6573731, essv5963757, essv5929023, essv6228897, essv6536213, essv6292777, essv6213787, essv5927803, essv6159233, essv6379078, essv5537792, essv6529449, essv5994351, essv6351704, essv6484261, essv6542966, essv5970871, essv5598480, essv6458090, essv5869543, essv5957577, essv6199639, essv6453673, essv6015373, essv6268872, essv5968260, essv5420808, essv6316564, essv6153741, essv5594677, essv6494668, essv6477239, essv6564507, essv5661791, essv6134421, essv5648468, essv6260262, essv6429145, essv6452634, essv5697546, essv6218405, essv6553663, essv5598085, essv6490844, essv6433069, essv5816993, essv6196755, essv5653663, essv6563311, essv6298694, essv5966416, essv6423343, essv6550205, essv6332081, essv5561836, essv5651132, essv6106193, essv6133513, essv5700454, essv6154085, essv6217399, essv6310499, essv6054435, essv5954285, essv5993551, essv6018302, essv5396242, essv6497996, essv6092579, essv6193294, essv6507909, essv5635418, essv6106098, essv6299249, essv5508922, essv5780512, essv5814333, essv6181181, essv5461077, essv5755644, essv6581033, essv6166359, essv6208687, essv5593088, essv6287008, essv6435526, essv5862556, essv6102541, essv6175282, essv5967371, essv6208622, essv6244477, essv5438383, essv6373466, essv5535376, essv5529681, essv5585159, essv6199270, essv5710980, essv5820334, essv5655286, essv5690364, essv6018229, essv6367466, essv6106747, essv5510592, essv5846511, essv5683595, essv6526420, essv6351055, essv6068943, essv5704523, essv5795862, essv5643894, essv5446725, essv5684835, essv5454558, essv5621742, essv6052988, essv6091624, essv6514603, essv6132557, essv6557257, essv6391235, essv5413851, essv5483156, essv6445267, essv5452584, essv5492330, essv5499443, essv5861428, essv6561085, essv5459039, essv6261188, essv5522736, essv6571042, essv6461679, essv5658603, essv5900792, essv6320444, essv5463638, essv5911230, essv5901402, essv6570860, essv5878647, essv6280825, essv6484926, essv5857277, essv6132686, essv6040363, essv6400372, essv5411915, essv5557764, essv5480124, essv5609132, essv6004162, essv6031315, essv5800829, essv6275341, essv5638209, essv6061890, essv6330935, essv6411921, essv5989097, essv6070704, essv6324662, essv5728191, essv6055592, essv6270078, essv6290360, essv6304452, essv5882951, essv6006168, essv6031471, essv5775155, essv5858190, essv6102115, essv6379744, essv5427178, essv6019365, essv5450746, essv5778181, essv5675159, essv5805239, essv5745219, essv5810430, essv5828910, essv5776633, essv5719385, essv5968411, essv6087116, essv6198078, essv6411837, essv6458059, essv5466822, essv5975901, essv6204580, essv5603693, essv6366253, essv6471797, essv5880235, essv6138112, essv6450178, essv6470307, essv6537484, essv5888717, essv5841708, essv5936137, essv5912547, essv5753627, essv6024076, essv6312369, essv5629419, essv6372903, essv6414135, essv6454601, essv5804334, essv6046727, essv5443246, essv6078088, essv5867203, essv6179713, essv6272474, essv5617057, essv6461139, essv6470074, essv6466350, essv5428203, essv5722950, essv6153421, essv6174521, essv6336887, essv6397204, essv5736280, essv5452173, essv6537407, essv6149228, essv5485820, essv6108652, essv6203075, essv6356219, essv5504019, essv5721554, essv6434907, essv6581525, essv5927281, essv6009458, essv6565620, essv6531804, essv5431646, essv5503103, essv6280406, essv6311355, essv6490985, essv6055563, essv6195086, essv6598177, essv5810193, essv6371913, essv6019897, essv6538866, essv6552614, essv6389997, essv5875706, essv5956942, essv6315152, essv5890851, essv5815716, essv6473491, essv5498043, essv6044908, essv6536488, essv5868142, essv6053134, essv6149755, essv6553093, essv5554125, essv6088197, essv5554589, essv5803104, essv6302664, essv5741721, essv6046057, essv6315189, essv5684386, essv6002357, essv5713791, essv5974340, essv6217848, essv6357559, essv5559323, essv5750038, essv6061999, essv6076009, essv5721388, essv6287077, essv6023573, essv5649326, essv5866285, essv5950777, essv6260212, essv6428332, essv6049381, essv6541783, essv5575855, essv6512993, essv5835308, essv6062156, essv5442058, essv5765574, essv5782067, essv6053308, essv5466215, essv6276730, essv5834674, essv6418502, essv6117839, essv6225836, essv6466987, essv6039611, essv5909957, essv6445037, essv6502522, essv6559274, essv5482638, essv5876783, essv6066285, essv6502241, essv6219261, essv5640875, essv6560507, essv5906659, essv6464133, essv6574673, essv5442367, essv5593613, essv5669971, essv5909188, essv5660927, essv6598071, essv5967355, essv6445164, essv6133299, essv6303588, essv5587490, essv5609099, essv6058958, essv6089742, essv5779465, essv5497813, essv5554051, essv6064588, essv6105871, essv5848527, essv6447580, essv6067498, essv6511820, essv5846025, essv6191193, essv6501697, essv5609151, essv5478591, essv6498659, essv6179318, essv5551047, essv6416841, essv6325801, essv5865494, essv6491020, essv5879180, essv5948044, essv6264409, essv6099029, essv5515531, essv5608923, essv5701971, essv6089364, essv6538090, essv5735680, essv5811345, essv5901280, essv5645590, essv5878369, essv6330732, essv5814581, essv6153516, essv6238724, essv6284360, essv6487540, essv5528221, essv6268419, essv5675510, essv5951068, essv6415281, essv5747149, essv6296834, essv5454835, essv6482878, essv6119952, essv5472894, essv5541402, essv5425196, essv6179209, essv6173401, essv6521925, essv6315188, essv6572818, essv6125744, essv6106483, essv6550266, essv5594847, essv5623278, essv5629025, essv5859778, essv6403511, essv6454007, essv6108115, essv5996163, essv5554521, essv6145488
SamplesHG01441, NA19012, NA11881, NA19207, HG00309, NA18870, NA19248, NA12154, NA12489, NA07347, NA19712, NA18520, HG00182, NA19904, NA18871, NA12286, NA19081, NA19819, NA12342, NA18523, NA19437, NA19114, HG00705, HG00500, NA11920, HG00112, HG00186, HG00464, NA18501, HG00131, NA20544, NA20796, NA20535, NA19311, NA20531, HG00160, NA19469, NA18545, HG01389, NA19319, NA20759, HG00463, HG01197, HG00657, NA18516, HG01051, HG01365, HG00189, HG00577, NA19331, NA19453, NA20800, HG01082, HG01488, NA18517, HG00428, HG00475, NA19449, HG00148, NA19920, HG00139, NA18489, NA12058, NA18507, HG00698, HG00334, NA19685, NA07051, HG00280, HG00335, NA19257, NA19701, HG00253, NA20322, NA19472, HG00156, HG00353, NA18868, HG00269, HG00592, NA12414, HG00158, HG01148, NA20505, HG00242, NA12763, HG01384, NA19076, NA19390, NA12004, NA19917, NA18536, NA19675, HG00259, NA19443, HG00096, NA19471, HG01061, HG01124, NA20127, NA12761, NA19429, HG00149, HG00338, NA19985, NA11831, NA18637, NA20520, NA18916, HG00174, HG00276, HG00284, HG01187, NA19700, HG00343, NA12144, NA20341, NA19324, NA19190, NA19000, NA20769, HG00306, NA19247, HG00267, NA19313, NA19080, HG01465, NA19372, NA20291, HG00653, HG01191, NA19374, HG00732, NA12778, NA19384, HG00325, NA12348, NA19716, NA20795, NA19102, HG00263, NA20753, NA18510, NA19119, NA19713, NA20540, NA18558, NA19098, HG00265, HG00672, NA19901, HG01170, NA19704, NA20814, HG00249, NA20818, HG00478, NA18487, HG00116, NA19347, NA20828, HG00103, NA19332, NA19909, HG00740, NA20797, HG00513, NA19720, HG00534, HG01070, NA19707, HG00246, NA12283, NA19074, NA19131, NA19159, HG01060, NA18910, HG00377, NA19711, NA20813, NA19462, HG00120, NA18543, NA11832, NA19235, NA12890, HG01137, NA19921, NA19138, NA19376, NA20534, NA12272, NA20756, HG01095, HG00443, NA18907, NA18909, NA18567, NA19391, NA19723, HG00611, NA12749, NA18867, NA19394, NA19403, NA12413, NA20518, HG00663, NA12889, NA19116, NA18631, NA19431, NA18989, NA20287, HG00311, NA18602, NA19818, NA20509, HG00654, NA19452, NA20507, NA18548, NA20317, NA11992, HG00123, NA19225, NA18917, NA19399, NA20812, NA12546, NA19160, HG00142, NA18499, HG00422, NA20543, HG00708, NA19198, HG01108, NA19470, HG00367, NA12045, NA19315, NA11932, NA18611, HG01125, NA11829, NA19130, NA19346, HG00119, HG00320, HG00275, HG00690, NA20528, NA18549, NA18853, NA19204, HG00442, HG01374, HG00473, NA19350, HG01489, NA18908, NA19473, NA20804, NA20502, NA19087, NA20517, HG00272, NA20538, NA19200, NA19385, HG00278, NA19007, NA20519, NA19456, NA18519, HG00126, NA07000, NA12775, NA19466, HG01354, NA18553, NA19439, HG00327, HG01198, NA20281, NA19137, NA12827, NA12718, NA19445, NA19625, HG00734, NA12249, NA19436, HG00318, HG00536, NA12748, NA20278, NA20503, NA20785, HG01052, HG00100, HG01075, NA18561, NA18933, NA19404, HG00127, NA18874, NA20516, HG00731, NA19401, HG00310, HG00261, HG00707, NA18511, NA20299, NA20294, NA20802, HG00117, HG01492, NA19451, NA20816, HG00375, NA19338, NA20342, HG00326, HG01491, NA20778, NA19461, HG00106, NA19834, NA20588, HG01188, HG01461, NA19108, HG00146, NA19355, NA12341, NA12044, NA19467, NA18873, NA19147, NA19438, HG01133, HG00256, NA18632, NA20770, HG00115, NA18559, HG00321, HG00339, NA19914, NA19982, NA12843, NA18624, HG00179, HG00250, HG01140, NA18508, NA19054, NA20819, NA20356, HG00472, HG00583, NA12383, NA11994, NA19660, HG00180, NA18618, NA07357, HG00231, NA20783, NA20801, NA20807, HG00689, NA19396, NA18856, HG00141, NA19397, NA19440, NA11933, NA20541, HG00178, NA12829, NA19256, HG01136, NA19835, NA20282, NA20336, HG00264, NA19679, HG00403, NA12830, NA20589, HG00584, NA19316, HG00133, HG00114, NA19213, HG00159, HG00620, NA19153, HG00124, NA12046, NA18620, NA19172, NA19703, HG01066, NA19375, NA20126, NA20512, NA19373, HG00629, NA18498, NA18923, NA18486, NA18522, NA20334, NA20344
Known GenesGHR
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662205
Frequency
Sample Size1151
Observed Gain0
Observed Loss420
Observed Complex0
Frequencyn/a


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