A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421571



Internal ID7905333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:35358591..35370946hg38UCSC Ensembl
Innerchr19:35849493..35861848hg19UCSC Ensembl
Innerchr19:40541333..40553688hg18UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg3812356
hg1912356
hg1812356
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5118522, essv5031434, essv5060952, essv5067496, essv5115354, essv5123842, essv5031121, essv5037317, essv5126852, essv5120461, essv5103792, essv5072534, essv5103494, essv5101305, essv5138457, essv5149860, essv5120875, essv5090837, essv5034054, essv5160730, essv5132082, essv5031550, essv5143936, essv5058176, essv5053295, essv5060624, essv5076185, essv5091565, essv5095676, essv5077007, essv5123644, essv5066575, essv5139250, essv5003082, essv5051171, essv5047311, essv5031137, essv5060232, essv5054074, essv5062870, essv5143250, essv5044505, essv5067790, essv5039529, essv5160072, essv5095239, essv5037257, essv5040576, essv5099357, essv5017460, essv5093750, essv5067449, essv5046937, essv5145590, essv5128184, essv5049805, essv5150125, essv5141841, essv5102396, essv5013437, essv5011981, essv5039660, essv5145443, essv5041992, essv5054196, essv5020609, essv5104657, essv5061487, essv5022263, essv5095872, essv5141784, essv5098230, essv5084620, essv5105287, essv5061377, essv5132516, essv5058794, essv5130451, essv5116659, essv5077900, essv5025860, essv5095921, essv5006440, essv5009572, essv5050487, essv5004133, essv5116402, essv5134747, essv5077188, essv5085648, essv5145675, essv5116901, essv5089878, essv5156783, essv5025606, essv5129760, essv5156884, essv5108377, essv5063770, essv5045588, essv5135565, essv5091498, essv5148478, essv5124982, essv5039860, essv5071655, essv5112544, essv5091037, essv5027466, essv5092662, essv5099470, essv5028669, essv5064503, essv5129817, essv5028649, essv5039465, essv5156158, essv5151829, essv5080632, essv5030631, essv5134209, essv5040634, essv5123254, essv5119305, essv5027474, essv5068953, essv5108079, essv5055709, essv5104689, essv5052986, essv5068343, essv5138005, essv5068515, essv5134926, essv5040018, essv5143565, essv5025719, essv5076181, essv5005031, essv5134090, essv5056081, essv5091625, essv5102889, essv5010009, essv5008501, essv5106166, essv5009571, essv5111189, essv5088610, essv5012413, essv5055785, essv5147971, essv5016125, essv5029671, essv5060806, essv5005420, essv5017538, essv5134401, essv5059052, essv5158880, essv5009273, essv5113694, essv5017973, essv5007349, essv5144815, essv5159750, essv5133328, essv5027780, essv5135642, essv5012443, essv5096549, essv5138184, essv5060148, essv5058602, essv5124144, essv5049680, essv5119961, essv5009555, essv5097707, essv5066101, essv5053297, essv5052730, essv5154634, essv5051364, essv5136737, essv5051802, essv5051832, essv5026774, essv5130743, essv5091943, essv5095514, essv5055352, essv5039280, essv5038325, essv5118145, essv5080625, essv5012621, essv5077960, essv5148732, essv5156930, essv5091126, essv5018421, essv5084654, essv5100942, essv5107371, essv5083323, essv5065274, essv5133561, essv5039046, essv5154420, essv5123696, essv5067934, essv5018838, essv5031578, essv5004646, essv5043874, essv5046343, essv5155356, essv5066730, essv5005191, essv5034956, essv5087635, essv5100183, essv5025688, essv5071512, essv5039907, essv5050854, essv5081870, essv5084937, essv5073917, essv5067051, essv5103158, essv5090031, essv5007624, essv5109282, essv5107691, essv5004168, essv5112958, essv5015229, essv5028798, essv5019673, essv5055012, essv5017132, essv5081584, essv5086644, essv5030306, essv5108420, essv5070244, essv5088417, essv5103352, essv5103059, essv5107157, essv5151551, essv5101518, essv5124767, essv5035624, essv5153147, essv5109271, essv5041672, essv5154745, essv5051195, essv5133096, essv5066075, essv5031819, essv5139103, essv5107460, essv5010320, essv5011634, essv5102118, essv5132599, essv5031375, essv5039002, essv5056208, essv5043328, essv5063360, essv5113822, essv5107535, essv5011325, essv5116129, essv5139967, essv5110446
SamplesNA18642, NA12767, NA18621, NA12154, NA20787, NA18160, NA18595, NA19757, NA18951, NA18534, NA18630, NA19665, NA21297, NA21693, NA12342, NA12801, NA18117, NA18975, NA18966, NA12752, NA18148, NA18612, NA12347, NA19783, NA20544, NA20796, NA19060, NA18570, NA12264, NA19748, NA12815, NA18639, NA10847, NA12340, NA18545, NA18993, NA20775, NA18153, NA18948, NA12707, NA20808, NA19751, NA18529, NA18953, NA18972, NA12828, NA19718, NA19010, NA18134, NA20909, NA18573, NA18608, NA17969, NA18702, NA20539, NA20900, NA10855, NA19983, NA18127, NA12776, NA18963, NA19686, NA18157, NA19651, NA10837, NA11891, NA11893, NA21611, NA12766, NA17962, NA18704, NA19084, NA20322, NA12287, NA18943, NA19761, NA20586, NA18139, NA10863, NA18632, NA12865, NA19062, NA17986, NA20505, NA19982, NA12843, NA18998, NA18624, NA18967, NA20875, NA21111, NA12056, NA11839, NA19059, NA19076, NA12282, NA20356, NA20515, NA18114, NA12336, NA12383, NA11994, NA18635, NA20811, NA18576, NA18960, NA10846, NA12864, NA18563, NA18618, NA21421, NA07345, NA19900, NA20504, NA20908, NA20783, NA18991, NA20801, NA12814, NA18636, NA20754, NA12740, NA12761, NA18638, NA19908, NA10852, NA19066, NA20882, NA21119, NA11843, NA11831, NA11894, NA18138, NA19075, NA11995, NA18593, NA19681, NA21608, NA19663, NA19727, NA12777, NA12234, NA18643, NA12144, NA18970, NA19684, NA19919, NA20773, NA12751, NA20769, NA19725, NA12239, NA19080, NA18640, NA12716, NA18747, NA19671, NA19771, NA17988, NA18954, NA18685, NA20512, NA12778, NA12877, NA19716, NA19784, NA20826, NA20910, NA21339, NA18968, NA21107, NA12275, NA18132, NA18674, NA21689, NA18106, NA19002, NA20540, NA18977, NA18749, NA19705, NA12872, NA18748, NA19704, NA19763, NA18564, NA18961, NA20582, NA10836, NA12283, NA18562, NA17996, NA20129, NA18579, NA20813, NA19902, NA19777, NA18543, NA18940, NA21103, NA11832, NA18619, NA18987, NA12890, NA18582, NA20525, NA12146, NA18597, NA19921, NA21378, NA19669, NA20358, NA20534, NA12272, NA18599, NA19078, NA18995, NA20799, NA06984, NA19193, NA12375, NA12413, NA12812, NA18133, NA19009, NA20518, NA17975, NA06995, NA12889, NA10835, NA18631, NA19747, NA20287, NA19755, NA07022, NA21086, NA11992, NA12003, NA18946, NA19064, NA19749, NA10838, NA12399, NA20288, NA20543, NA18610, NA12817, NA12045, NA18108, NA10840, NA20768, NA12874, NA18532, NA21614, NA20524, NA06994, NA12832, NA20502, NA20517, NA12335, NA18555, NA19007, NA11917, NA17974, NA17995, NA19746, NA10864, NA07031, NA10854, NA18105, NA07435, NA18166, NA12827, NA10865, NA12249, NA12750, NA12344, NA18158, NA07037, NA20890, NA12802
Known GenesFFAR3
MethodSNP array
AnalysisTo assess copy number variation we merged and analysed the probe level intensity data from both the Affymetrix and Illumina arrays.
PlatformNot specified
Comments
ReferenceAltshuler_et_al_2010
Pubmed ID20811451
Accession Number(s)esv2421571
Frequency
Sample Size1184
Observed Gain0
Observed Loss281
Observed Complex0
Frequencyn/a


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