A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2672571



Internal ID9938676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:78423474..78424584hg38UCSC Ensembl
chr13:78997609..78998719hg19UCSC Ensembl
Cytoband13q22.3
Allele length
AssemblyAllele length
hg381111
hg191111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6231448, essv5912696, essv6244665, essv5924449, essv5821083, essv6511018, essv6208291, essv6093084, essv5973273, essv6321400, essv5722370, essv6277200, essv6390926, essv5930877, essv5910398, essv6549185, essv6343353, essv6246885, essv5946301, essv6096714, essv5772864, essv5830507, essv6262361, essv6446064, essv6369160, essv5651204, essv5654786, essv6135423, essv5493924, essv5446261, essv6301309, essv5401342, essv5402685, essv5857257, essv6389468, essv6101406, essv5728902, essv6223143, essv5527119, essv5431513, essv6267900, essv5860272, essv6172451, essv5457625, essv5714365, essv5699365, essv6349221, essv6103898, essv5667817, essv6539969, essv6377994, essv5925665, essv5629681, essv5522899, essv6108916, essv5399981, essv5924359, essv6233121, essv6255268, essv6216235, essv5524863, essv5773819, essv5586675, essv5538827, essv5849049, essv6304660, essv6274103, essv6149915, essv5994642, essv5703319, essv6154933, essv6077005, essv5506779, essv5724522, essv6533775, essv6045290, essv5511080, essv5533161, essv5752915, essv6035978, essv5858145, essv5605006, essv6580731, essv5807702, essv5420727, essv5670365, essv5520050, essv5440984, essv6063281, essv6217951, essv6197982, essv6359081, essv6517949, essv6472980, essv5732385, essv5951827, essv5557430, essv5722287, essv5520479, essv6427468, essv6402694, essv5589471, essv6471068, essv6206640, essv5849835, essv5405260, essv6219950, essv5756446, essv5802498, essv6098914, essv5501445, essv5653038, essv5820129, essv6574645, essv6121186, essv6226935, essv5706893, essv6122526, essv5483158, essv6144783, essv6230361, essv5804883, essv5733002, essv5475311, essv5974886, essv5803476, essv6120484, essv6327711, essv5843692, essv6012603, essv6588302, essv5841395, essv6060061, essv5403562, essv5592541, essv6509032, essv5540531, essv5444717, essv6132026, essv5754084, essv5459611, essv5585147, essv5543720, essv5755686, essv6155741, essv5597545, essv5682958, essv6279634, essv6529916, essv5805818, essv5731195, essv6014956, essv6532829, essv5585579, essv6528782, essv5994243, essv5421977, essv5958525, essv6357872, essv5730883, essv5668102, essv5495234, essv6127341, essv5825195, essv6486401, essv6337437, essv6472781, essv6477141, essv5992718, essv5802184, essv5766386, essv5793692, essv6108700, essv6057596, essv5875995, essv5588943, essv6544842, essv6262999, essv5704458, essv5946636, essv6118805, essv6306463, essv6177946, essv5852019, essv5671327, essv5512774, essv6424211, essv6038701, essv5911424, essv6456844, essv5507234, essv6551067, essv6549414, essv5795935, essv6507002, essv5568400, essv6570931, essv6458238, essv5575209, essv6344189, essv6325307, essv6059202, essv6314242, essv6436303, essv6327212, essv5612954, essv5773746, essv5605251, essv6068931, essv5847974, essv5841707, essv5890850, essv5795132, essv5425918, essv6391885, essv6497082, essv5801127, essv5415457, essv5410423, essv5426350, essv6549668, essv6129059, essv5570943, essv6594760, essv6022880, essv6000818, essv5663239, essv6435162, essv6510217, essv5668838, essv5500610, essv5645875, essv5981267, essv5652096, essv5556750, essv6083707, essv5970969, essv5793552, essv5681772, essv6207890, essv5870767, essv6404324, essv6207752, essv6017633, essv5400925, essv5489067, essv5506315, essv5970269, essv5453932, essv5431706, essv6133382, essv6080214, essv6280254, essv5891647, essv5806371, essv6194713, essv6054076, essv5794416, essv6171584, essv5855828, essv6257423, essv5494761, essv6162519, essv6128544, essv6315711, essv6571114, essv6459543, essv6257168, essv5871353, essv5572138, essv6203661, essv6483943, essv6032655, essv6135266, essv5464848, essv5822184, essv6216122, essv6191003, essv6096409, essv6336569, essv6185074, essv6405201, essv6089181, essv6093656, essv5398112, essv5508834, essv5659678, essv5530620, essv6220988, essv6184433, essv6148906, essv5620830, essv5510557, essv5841692, essv5763894, essv6474666, essv6449365, essv5868638, essv6182048, essv6076131, essv6458623, essv5801158, essv6359085, essv6144763, essv6075529, essv6017065, essv5410445, essv5956136, essv6514487, essv6259038, essv6479989, essv6403114, essv5971358, essv5651436, essv5586051, essv6072913, essv6120374, essv6450185, essv5522238, essv6549696, essv5629198, essv6058085, essv6572835, essv6531103, essv6202307, essv5607044, essv5786450, essv5455831, essv5723988, essv6290634, essv6111064, essv6390937, essv5667506, essv5402262, essv5430604, essv5424287, essv5747825, essv5834863, essv6452105, essv6319686, essv5465259, essv5870429, essv6146316, essv5474433, essv6569583, essv5422502, essv6367430, essv6532667, essv6478095, essv5742580, essv5429485, essv6349140, essv6255889, essv6062851, essv5448609, essv6001534, essv5607198, essv6593771, essv5832981, essv6255116, essv6355172, essv5734918, essv5586027, essv6342738
SamplesHG01191, HG00180, HG01061, NA18965, NA20509, NA12383, HG00189, NA20761, HG00542, NA12717, HG00442, NA19058, HG01462, HG00608, NA19909, NA18621, HG00142, NA18947, NA12286, NA20508, NA19664, HG00671, NA19066, NA10851, HG00559, NA18565, HG00315, HG00151, NA20512, HG00244, NA12751, NA18530, NA18959, NA18616, HG00449, HG01051, NA18633, HG00261, NA19067, NA18602, HG00693, NA18988, NA18627, HG00271, HG00138, HG00589, HG00272, NA18597, NA20798, NA19678, NA18558, HG01492, NA18574, NA07048, NA11918, NA18582, NA18571, HG01083, HG01365, HG00537, HG00243, NA19079, NA18949, HG00512, HG00281, NA20759, HG01080, HG00335, HG00156, HG00325, HG00534, HG00705, HG00160, NA18557, HG01048, NA18985, HG01133, HG01550, HG00253, NA18539, NA20753, HG00137, NA12777, NA18951, NA20800, HG00443, HG00266, NA19070, NA19056, HG00557, NA12878, HG00732, NA20521, HG01095, NA20810, NA19717, NA19455, NA20314, HG00583, NA19081, HG00275, NA18579, NA12718, NA18572, HG01149, NA18948, HG00692, NA19064, NA18548, HG01102, HG00284, NA18573, NA19084, NA18626, HG00690, HG00404, HG00479, HG00331, HG00684, NA19750, NA06989, HG01101, NA18553, NA18555, NA18963, HG00704, NA19469, NA18570, HG00126, NA18593, NA12546, NA19012, NA18953, HG01148, NA19003, HG00258, NA20799, NA19729, HG00611, NA18632, HG00155, HG00254, NA18628, NA20815, NA19072, NA19010, HG01174, HG01375, NA19835, NA20792, NA20778, HG00237, HG01137, NA19083, NA18943, HG00662, HG00418, NA18615, HG01489, HG00620, HG00339, HG00614, HG00513, HG00478, NA18631, NA20786, HG00112, NA11843, NA20758, NA19080, HG00377, HG00274, NA18989, NA11892, HG00628, HG00171, NA18968, NA18624, NA12890, NA19065, NA18612, NA19074, HG01437, HG00553, NA19676, NA18620, HG00593, HG01356, NA20543, HG00231, NA18924, HG00249, NA11829, HG00361, NA18592, HG01052, NA18980, HG00100, NA18561, NA19704, NA20531, HG01389, HG00306, NA18603, HG00318, HG01465, HG00699, NA18545, NA19777, NA18596, HG01456, HG00566, NA18606, NA20808, HG00177, NA18526, HG01140, HG00327, NA18967, NA19068, HG01250, NA19746, NA19660, NA19076, NA19005, NA18944, NA18550, HG01366, HG00501, HG00702, HG00689, HG00448, NA19723, NA18982, NA12891, HG00330, NA12348, HG00634, NA18942, HG00736, HG00610, HG00346, NA12283, HG01354, HG00247, NA19054, HG00369, HG00270, NA19681, NA18964, HG00590, NA12282, HG00277, HG01455, HG01067, HG00683, NA18874, HG00106, NA20819, NA06984, HG00236, NA19137, NA19371, NA19731, HG00422, NA18986, NA19087, HG01440, NA19159, HG00309, HG00182, NA19002, HG00427, NA19725, HG00637, HG00338, NA20533, HG00530, NA18638, HG00464, HG00108, HG00260, NA19007, NA18614, HG01353, HG00313, HG00133, HG01183, HG00188, HG00149, NA18544, HG00560, NA18613, NA19657, HG00183, HG00176, NA19082, NA12003, HG00428, HG00577, NA18956, HG00701, HG00475, NA19236, HG00436, HG00533, NA18637, HG00500, NA18976, NA18630, HG00619, NA19776, HG00708, HG01390, NA18566, NA20299, NA12249, HG00613, HG00525, NA19338, HG00141, NA20542, NA18634, NA18945, NA18546, NA18608, NA19685, HG00476, NA18542, NA20801, HG00119, HG00285, NA18952, NA12775, HG00565, NA18950, HG00375, HG00638, NA19773, NA19439, NA20797, NA19085, HG00125, NA19818, NA19078, HG00707, HG00672, HG00111, HG00578, HG01491, HG00312, NA19060, NA18987, HG00656, HG00698, NA19726, NA18972, NA18552, HG00252, NA19661, NA18984, HG00472, HG01378, NA19004
Known GenesRNF219-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2672571
Frequency
Sample Size1151
Observed Gain0
Observed Loss364
Observed Complex0
Frequencyn/a


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