A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671219



Internal ID9590638
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137818561..137819580hg38UCSC Ensembl
Outerchr9:137818500..137819645hg38UCSC Ensembl
Innerchr9:140713013..140714032hg19UCSC Ensembl
Outerchr9:140712952..140714097hg19UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg381146
hg191146
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5688285, essv6577206, essv6440040, essv6475261, essv6046220, essv6008786, essv6066669, essv5514225, essv5627241, essv6162659, essv6268507, essv5940485, essv6070815, essv6459784, essv5864969, essv6040146, essv5475885, essv5838443, essv5863803, essv6127893, essv6310919, essv6404590, essv6537488, essv5531496, essv5610172, essv5843295, essv5450579, essv5863283, essv5582688, essv6365998, essv5789448, essv5795457, essv6445187, essv6319621, essv5575532, essv6235886, essv5554415, essv6429452, essv5501720, essv5752065, essv5962310, essv5608679, essv6089414, essv5968431, essv6448782, essv5904880, essv5902083, essv6577962, essv6009518, essv6208483, essv6290606, essv5726862, essv6454093, essv5434946, essv6374832, essv5569870, essv5611599, essv5553629, essv5628194, essv6274980, essv6331038, essv6373193, essv5779953, essv5991025, essv5664792, essv6519780, essv5512194, essv5588015, essv5686412, essv6564090, essv6112487, essv5554424, essv5931516, essv5671907, essv5938529, essv6078240, essv5632435, essv5973566, essv6252905, essv5573878, essv6285390, essv6241966, essv5825885, essv5533037, essv5814194, essv6120573, essv5426182, essv6221456, essv6320060, essv6289541, essv5671013, essv5817942, essv6199107, essv5545143, essv5959075, essv6172455, essv6149196, essv5913044, essv5969879, essv6347247, essv5582476, essv5632228, essv6078250, essv6106982, essv5930537, essv6020010, essv6308868, essv6023382, essv6553289, essv5801990, essv5974873, essv5600759, essv5736438, essv6244913, essv5656922, essv5518267, essv5713692, essv5930903, essv5429819, essv5764065, essv5867115, essv6071753, essv5470306, essv5880588, essv6190765, essv6369623, essv6050177, essv5906627, essv6111768, essv5569336, essv5948565, essv5923011, essv5573804, essv5493305, essv5528056, essv6494727, essv6112480, essv6359749, essv6004240, essv6272162, essv6281161, essv6005093, essv6368493, essv6587729, essv6544003, essv5470789, essv6107090, essv6125593, essv6208401, essv6261008, essv6546723, essv6029526, essv5900007, essv6541770, essv5594810, essv5816859, essv6477585, essv5641944, essv5802472, essv5653013, essv5902585, essv6104315, essv6385442, essv6512482, essv6309728, essv5775162, essv5886371, essv6562900, essv5935059, essv5775686, essv6005037, essv6109460, essv5726595, essv5451356, essv5792365, essv6108954, essv6226475, essv5438658, essv5418554, essv6219786, essv5812465, essv5419695, essv5485209, essv5769036, essv6135754, essv6131874, essv5561191, essv5500255, essv5797289, essv6313880, essv6539999, essv5817214, essv6178449, essv5848449, essv6360890, essv5458702, essv6386908, essv6045594, essv6034573, essv5477240, essv5582718, essv5727482, essv5835529, essv5980525, essv6481381, essv5950474, essv6328275, essv5444688, essv6162757, essv5946696, essv5425507, essv5650889, essv6485325, essv6284530, essv6514808, essv6225689, essv6526225, essv6535747, essv6491751, essv5902090, essv5928546, essv6029416, essv5962060, essv6099733, essv6269096, essv6374759, essv5441516, essv6412904, essv5942998, essv5708624, essv6478895, essv6541757, essv5715747, essv6407053, essv5791201, essv5789403, essv6516973, essv5731803, essv6526658, essv6505383, essv5940233, essv5888968, essv6214140, essv6049736, essv5484589, essv5523842, essv6249607, essv6125014, essv6182271, essv5579618, essv6472764, essv5426314, essv6142164, essv5786217, essv6048848, essv5686226, essv6133711, essv6492582, essv6313790, essv6583772, essv5699058, essv6173474, essv6252597, essv6464533, essv5559924, essv6140215, essv5710251, essv5866850, essv5498794, essv6030946, essv5885381, essv6341495, essv5842802, essv5984661, essv6081264, essv6303595, essv5797686, essv5596635
SamplesHG01357, HG00613, NA18870, NA19248, NA19312, NA19712, NA18595, NA18616, NA19904, HG00619, NA18534, NA18530, HG00418, HG01072, HG01052, NA19819, NA18933, NA19404, HG00328, NA19437, HG00705, NA18874, HG00437, HG01342, HG00369, HG00731, NA18501, NA19093, HG00131, NA19401, NA19311, NA19469, HG00707, NA19223, NA19455, NA06989, NA12340, NA18545, HG01389, NA19430, HG00463, NA18516, NA19317, NA19359, NA19331, NA19451, HG00475, HG00542, NA19449, NA19920, NA18489, NA19461, NA18546, HG00701, HG00683, NA19834, HG01188, NA20805, NA18963, HG00651, NA19004, NA19678, HG00335, HG00557, HG01101, NA19257, NA19108, HG00331, HG00146, NA19236, NA19355, NA19474, HG00319, HG00253, NA20322, NA18557, NA19472, NA20521, NA18950, HG01171, NA18596, NA18868, NA20340, NA18632, HG00342, NA20532, NA19062, NA19463, NA12763, NA18912, NA19982, NA19085, HG01384, NA18934, NA18508, HG00593, NA19390, HG00421, NA18566, HG00337, NA18635, NA19057, NA18536, NA19675, HG00638, NA18576, NA18622, NA19443, NA18623, NA19900, HG01048, NA19444, HG00610, HG01047, HG00689, NA19396, NA19397, NA20127, NA07048, NA18638, NA18956, NA19398, NA19429, NA19440, HG00150, HG00533, HG00258, NA19985, NA11831, NA19256, NA19075, HG00174, HG00254, HG00284, NA19457, NA19700, HG00343, NA19082, HG00584, NA18539, NA19190, NA19676, HG00306, NA19247, NA19725, HG00267, NA19313, NA19377, NA19380, NA19786, HG00108, NA18620, NA19129, NA19172, NA19189, NA19372, NA20291, HG00653, NA19703, NA19375, NA19393, NA20348, HG00732, HG00325, NA18498, NA18923, NA18486, NA19102, HG00559, NA18522, NA18510, NA20344, NA19657, NA19713, NA18558, NA18977, HG00672, NA19901, HG00282, HG01170, HG00232, NA19704, NA18487, NA19332, HG00740, NA18613, NA18988, NA12283, NA18562, NA18910, NA19382, NA19711, NA19462, NA18606, NA18543, NA18987, NA18582, NA18999, NA20525, NA19921, NA19138, NA19376, NA12272, NA18599, NA18907, NA19391, NA19078, NA19009, HG00138, HG00663, NA12889, NA19116, NA19431, NA20289, HG00580, NA19719, NA18544, NA19434, HG00311, HG00448, NA18602, NA19818, HG00608, NA19099, HG00654, HG01390, NA19452, NA18548, NA19327, NA18917, NA12399, NA19399, NA18499, NA18571, HG00422, NA18924, NA19371, HG00708, NA19198, HG01108, NA19070, NA19470, NA19130, HG00251, HG00275, HG00690, HG00641, NA18574, NA18853, HG00442, HG00137, HG01462, HG01489, NA19079, HG00684, HG00336, HG00476, NA19448, HG00671, NA19468, HG00702, NA19385, NA18519, NA19466, HG01067, HG01354, NA19439, HG00312, HG01198, NA12718, HG00313, NA19445, NA19625, NA18861, HG00607, NA11930, NA19321, NA20278
Known GenesEHMT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671219
Frequency
Sample Size1151
Observed Gain0
Observed Loss278
Observed Complex0
Frequencyn/a


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