A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422143



Internal ID8252591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:93698082..93701245hg38UCSC Ensembl
Innerchr7:93327394..93330557hg19UCSC Ensembl
Innerchr7:93165330..93168493hg18UCSC Ensembl
Cytoband7q21.3
Allele length
AssemblyAllele length
hg383164
hg193164
hg183164
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5088515, essv5042414, essv5114392, essv5012749, essv5145811, essv5033601, essv5043392, essv5008958, essv5142404, essv5047188, essv5068857, essv5040872, essv5135626, essv5159063, essv5006705, essv5044210, essv5044752, essv5128573, essv5157133, essv5040358, essv5147661, essv5159591, essv5050933, essv5050124, essv5126001, essv5148247, essv5145380, essv5138045, essv5021367, essv5018992, essv5066055, essv5049322, essv5038982, essv5032254, essv5138159, essv5009763, essv5047581, essv5102178, essv5072934, essv5090676, essv5063920, essv5047773, essv5014134, essv5049540, essv5143975, essv5105259, essv5072780, essv5074484, essv5153155, essv5030758, essv5020332, essv5096855, essv5055653, essv5031300, essv5021468, essv5109026, essv5096211, essv5002837, essv5077452, essv5088982, essv5093028, essv5110882, essv5018400, essv5142585, essv5108733, essv5103240, essv5008265, essv5156125, essv5135287, essv5122323, essv5048889, essv5121411, essv5077355, essv5074282, essv5025405, essv5134226, essv5096907, essv5070226, essv5059403, essv5007213, essv5092319, essv5153530, essv5128934, essv5006264, essv5035458, essv5121463, essv5037137, essv5036379, essv5058682, essv5115249, essv5029717, essv5144912, essv5124786, essv5058011, essv5160954, essv5136060, essv5126551, essv5086735, essv5052726, essv5077427, essv5124386, essv5013611, essv5126327, essv5105864, essv5029502, essv5083610, essv5023094, essv5112517, essv5137219, essv5153657, essv5144637, essv5144407, essv5156388, essv5111457, essv5068987, essv5014697, essv5135960, essv5137595, essv5086283, essv5062502, essv5128858, essv5159682, essv5058829, essv5146118, essv5144104, essv5110793, essv5046162, essv5160038, essv5132401, essv5111903, essv5028493, essv5015721, essv5160699, essv5008865, essv5079730, essv5152605, essv5141849, essv5015186, essv5071688, essv5042996, essv5055460, essv5131048, essv5118409, essv5120201, essv5055662, essv5042922, essv5002886, essv5089144, essv5143460, essv5093480, essv5126401, essv5128647, essv5087554, essv5146932, essv5022363, essv5028981, essv5111380, essv5061872, essv5015848, essv5103901, essv5088153, essv5007788, essv5119438, essv5082574, essv5061913, essv5020752, essv5006353, essv5006318, essv5151686, essv5113587, essv5155173, essv5073827, essv5116701, essv5023459, essv5109507, essv5140457, essv5078968, essv5101886, essv5025746, essv5018795, essv5111411, essv5015664, essv5064038, essv5037771, essv5016724, essv5044009, essv5158011, essv5034207, essv5084546, essv5079646, essv5066642, essv5030468, essv5037159, essv5157784, essv5062984, essv5004118, essv5124174, essv5117796, essv5037667, essv5129797, essv5024904, essv5074212, essv5044899, essv5056002, essv5065437, essv5024418, essv5126843, essv5137762, essv5127107, essv5012578, essv5114256, essv5109166, essv5158726, essv5148661, essv5093138, essv5086132, essv5110892, essv5140436, essv5110753, essv5066913, essv5066654, essv5003873, essv5125580, essv5020729, essv5047373, essv5098878, essv5011726, essv5093147, essv5070506, essv5046814, essv5045387, essv5008973, essv5037222, essv5012879, essv5096803, essv5023229, essv5077432, essv5056278, essv5071297, essv5019855, essv5005865, essv5034088, essv5096634, essv5047404, essv5007433, essv5007227, essv5031048, essv5123994, essv5056355, essv5052619, essv5030736, essv5130159, essv5089864, essv5039115, essv5065482, essv5064733, essv5097017, essv5011542, essv5039971, essv5005084, essv5007814, essv5134586, essv5142329, essv5025034, essv5109419, essv5063909, essv5070057, essv5057452, essv5071049, essv5073745, essv5103377, essv5160028, essv5015544, essv5067996, essv5050443, essv5097453, essv5050499, essv5129450, essv5036741, essv5071301, essv5153137, essv5063938, essv5054348, essv5004834, essv5043631, essv5138514, essv5066624, essv5056886, essv5085863, essv5140806, essv5066314, essv5104483, essv5055739, essv5012458, essv5091710, essv5085131, essv5002378, essv5130566, essv5081730, essv5055319, essv5125074, essv5032295, essv5067920, essv5115052, essv5035750, essv5089219, essv5065557, essv5050930, essv5013413, essv5067734, essv5019769, essv5100011, essv5009998
SamplesNA20588, NA12383, NA20529, NA20891, NA18621, NA20508, NA18861, NA19399, NA20783, NA21099, NA21100, NA21352, NA12344, NA18999, NA20873, NA20802, NA21457, NA12340, NA21137, NA20332, NA21360, NA19443, NA20771, NA20359, NA12750, NA12399, NA12813, NA19127, NA19373, NA19171, NA21378, NA21520, NA20589, NA10854, NA21473, NA19307, NA19191, NA12802, NA20756, NA20795, NA18558, NA21297, NA11918, NA19724, NA20768, NA19457, NA21493, NA21108, NA21365, NA21613, NA18136, NA20759, NA21574, NA12275, NA20518, NA21650, NA20775, NA18868, NA19215, NA19372, NA19238, NA12044, NA11994, NA19172, NA19722, NA21523, NA19796, NA20342, NA10839, NA21417, NA21400, NA18867, NA21105, NA20515, NA19789, NA20360, NA12777, NA20904, NA19908, NA12760, NA12489, NA21414, NA20800, NA21575, NA07022, NA20297, NA21596, NA21119, NA19161, NA20810, NA20760, NA19176, NA20883, NA19751, NA12718, NA20519, NA20358, NA20525, NA19654, NA12818, NA20866, NA19150, NA20581, NA19181, NA19151, NA11840, NA12056, NA18532, NA06989, NA19656, NA12145, NA12707, NA21356, NA12144, NA19469, NA10856, NA12043, NA20319, NA19375, NA20799, NA18702, NA19712, NA19747, NA19140, NA21528, NA18913, NA12873, NA20520, NA20790, NA20530, NA19470, NA20544, NA20281, NA19783, NA12347, NA19778, NA20906, NA20897, NA19117, NA06994, NA18631, NA07435, NA19178, NA19474, NA19211, NA20510, NA19102, NA19770, NA12875, NA20758, NA20826, NA18872, NA20345, NA20502, NA19430, NA19129, NA11892, NA12006, NA12154, NA20908, NA19214, NA20898, NA20350, NA21091, NA20772, NA20874, NA20284, NA19222, NA19700, NA19794, NA20877, NA19203, NA11829, NA12814, NA19914, NA19332, NA20899, NA21519, NA21436, NA20531, NA12045, NA18486, NA19819, NA20805, NA19777, NA12248, NA12865, NA20808, NA20346, NA19669, NA18870, NA07357, NA19746, NA19396, NA21371, NA19201, NA20861, NA21600, NA20279, NA20900, NA19198, NA20317, NA12891, NA19916, NA21355, NA12348, NA19653, NA19771, NA19313, NA21103, NA12005, NA21447, NA19651, NA19180, NA20819, NA20896, NA21454, NA20349, NA10853, NA19915, NA21107, NA20869, NA20343, NA19159, NA20347, NA20811, NA19189, NA21601, NA19456, NA21451, NA21494, NA20818, NA10847, NA21599, NA12335, NA19210, NA19657, NA20879, NA21682, NA20524, NA10836, NA12003, NA19462, NA12872, NA20809, NA19748, NA19327, NA21439, NA12376, NA21098, NA11839, NA20344, NA10838, NA19776, NA19179, NA19221, NA07045, NA21339, NA10830, NA12892, NA21578, NA19772, NA12239, NA12827, NA10852, NA12766, NA21142, NA19659, NA18576, NA19035, NA21302, NA21143, NA19308, NA21113, NA18914, NA06995, NA11882, NA19206, NA19183, NA20801, NA06997, NA12864, NA12775, NA19749, NA19240, NA21425, NA07051, NA19439, NA19467, NA18869, NA07037, NA07055, NA20887, NA20357, NA20333, NA12708, NA19472, NA19173, NA19828, NA18500, NA12830, NA19096, NA21455, NA21303, NA21509, NA19757, NA19755, NA19146, NA18488, NA19148, NA20907, NA12776, NA10865
Known Genes
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)esv2422143
Frequency
Sample Size1184
Observed Gain0
Observed Loss313
Observed Complex0
Frequencyn/a


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