A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421845



Internal ID7905607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:46755299..46808099hg38UCSC Ensembl
Innerchr3:46796789..46849589hg19UCSC Ensembl
Innerchr3:46771793..46824593hg18UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg3852801
hg1952801
hg1852801
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5048756, essv5004096, essv5154440, essv5109890, essv5068990, essv5093753, essv5156003, essv5159423, essv5134696, essv5054900, essv5088955, essv5085132, essv5099817, essv5103618, essv5110199, essv5076421, essv5095788, essv5098397, essv5007142, essv5082785, essv5086022, essv5121744, essv5059968, essv5043942, essv5060869, essv5103859, essv5020958, essv5087136, essv5134596, essv5071819, essv5092830, essv5085143, essv5069439, essv5032017, essv5147844, essv5146309, essv5118624, essv5073863, essv5105122, essv5068998, essv5128529, essv5063602, essv5074056, essv5103108, essv5093338, essv5012756, essv5030063, essv5150844, essv5147712, essv5018025, essv5107018, essv5082348, essv5042057, essv5048197, essv5127158, essv5091331, essv5073850, essv5062792, essv5154259, essv5147386, essv5094139, essv5138235, essv5067220, essv5157631, essv5034559, essv5139730, essv5127356, essv5058252, essv5159268, essv5156028, essv5009660, essv5089948, essv5138137, essv5087127, essv5147978, essv5041597, essv5115461, essv5028474, essv5078089, essv5030588, essv5154777, essv5073899, essv5005538, essv5060409, essv5058001, essv5103793, essv5141721, essv5104080, essv5008715, essv5013164, essv5157302, essv5094831, essv5025918, essv5011119, essv5118266, essv5148284, essv5105879, essv5069791, essv5069497, essv5084136, essv5071116, essv5039325, essv5136942, essv5115629, essv5027364, essv5123693, essv5055879, essv5048493, essv5025621, essv5082928, essv5030255, essv5021544, essv5040636, essv5120329, essv5011095, essv5006023, essv5108943, essv5112546, essv5149786, essv5131168, essv5063292, essv5158087, essv5023010, essv5137037, essv5122865, essv5120560, essv5088745, essv5151952, essv5152261, essv5012907, essv5109115, essv5053466, essv5156528, essv5129696, essv5086601, essv5148938, essv5123238, essv5058747, essv5021251, essv5040480, essv5039148, essv5015569, essv5056302, essv5086365, essv5151811, essv5091251, essv5044935, essv5065307, essv5053341, essv5011865, essv5107882, essv5070940, essv5044730, essv5047177, essv5129472, essv5102125, essv5009596, essv5108982, essv5087561, essv5080194, essv5040608, essv5019076, essv5142804, essv5056853, essv5024057, essv5156121, essv5092018, essv5115004, essv5039180, essv5073451, essv5002498, essv5039804, essv5007421, essv5007980, essv5041006, essv5108158, essv5134913, essv5086769, essv5141164, essv5097682, essv5047215, essv5083814, essv5108015, essv5054216, essv5160068, essv5098442, essv5036911, essv5149061, essv5117364, essv5008366, essv5156630, essv5146318, essv5085241, essv5122570, essv5007896, essv5074264, essv5085883, essv5001994, essv5137001, essv5040378, essv5156521, essv5144238, essv5062550, essv5093796, essv5076035, essv5088560, essv5120757, essv5042965, essv5160460, essv5094830, essv5029379, essv5066320, essv5111760, essv5034816, essv5160417, essv5052688, essv5050464, essv5123176, essv5049379, essv5150216, essv5158288, essv5059840, essv5149353, essv5052547, essv5061775, essv5024027, essv5029314, essv5082073, essv5080544, essv5159762, essv5150867, essv5117817, essv5074332, essv5142160, essv5102165, essv5102194, essv5056404, essv5111039, essv5025770, essv5153550, essv5004446, essv5129480, essv5128920, essv5088869, essv5145186, essv5055918, essv5013982, essv5109131, essv5098155, essv5061339, essv5062987, essv5044114, essv5009670, essv5152178, essv5055183, essv5087265, essv5049926, essv5002528, essv5010400, essv5003059, essv5126466, essv5136846, essv5081793, essv5110556, essv5057472, essv5015158, essv5124330, essv5068633, essv5102504, essv5005966, essv5116673, essv5149266, essv5126811, essv5054271, essv5083993, essv5145159, essv5036192, essv5122953, essv5013754, essv5138316, essv5087557, essv5111855, essv5115029, essv5025909, essv5132075, essv5160463, essv5150281, essv5106927, essv5156508, essv5143333, essv5083884, essv5052677, essv5082591, essv5128102, essv5121931, essv5024408, essv5059214, essv5012760, essv5073310, essv5004129, essv5023135, essv5140616, essv5094606, essv5010102, essv5027329, essv5156448, essv5077732, essv5155073, essv5028150, essv5113337, essv5078275, essv5008043, essv5072600, essv5143081, essv5066438, essv5081068, essv5125410, essv5159221, essv5064780, essv5146775, essv5114192, essv5046585, essv5044853, essv5137017, essv5114094, essv5041657, essv5105720
SamplesNA19258, NA21636, NA21317, NA21683, NA21488, NA19909, NA20508, NA19204, NA18862, NA18861, NA20300, NA19399, NA18855, NA21352, NA20752, NA19350, NA20294, NA18925, NA20332, NA21475, NA21738, NA21360, NA21635, NA21522, NA20359, NA18510, NA21776, NA21434, NA19127, NA19373, NA19192, NA19171, NA19379, NA18519, NA21378, NA19319, NA21520, NA19315, NA19307, NA19191, NA18923, NA18916, NA21479, NA19650, NA19457, NA21353, NA20287, NA21365, NA19904, NA20291, NA21391, NA19130, NA20539, NA21574, NA19041, NA19199, NA21650, NA21529, NA18868, NA19372, NA19238, NA19235, NA19207, NA19172, NA19702, NA19128, NA19226, NA19036, NA19239, NA21357, NA20342, NA19708, NA21420, NA21400, NA20127, NA19985, NA20335, NA19027, NA20360, NA21313, NA19908, NA21414, NA21587, NA21575, NA19403, NA19194, NA19175, NA19455, NA19663, NA20519, NA18871, NA19103, NA21617, NA21366, NA19208, NA12818, NA19142, NA20901, NA19150, NA18875, NA19181, NA19151, NA21295, NA18930, NA18912, NA19154, NA18857, NA19099, NA19452, NA19625, NA19440, NA19390, NA19115, NA19256, NA19149, NA19147, NA18517, NA18863, NA20276, NA19712, NA19434, NA21576, NA19140, NA21528, NA18913, NA21336, NA19444, NA21768, NA21368, NA19835, NA21390, NA19428, NA19324, NA20544, NA21582, NA20281, NA21388, NA19182, NA19328, NA19117, NA18501, NA19705, NA19223, NA19178, NA19474, NA19093, NA18509, NA20289, NA18873, NA21384, NA19711, NA18872, NA20345, NA17972, NA19129, NA21487, NA21491, NA21421, NA20277, NA19429, NA19346, NA19214, NA19431, NA18497, NA20284, NA20290, NA19222, NA19700, NA21477, NA19794, NA19397, NA18924, NA19203, NA21577, NA19466, NA19249, NA21620, NA20292, NA19914, NA21436, NA19704, NA18507, NA18917, NA18486, NA21648, NA19393, NA21723, NA21717, NA20346, NA21693, NA19098, NA21784, NA19374, NA19381, NA21371, NA19201, NA18489, NA19448, NA19902, NA21526, NA19198, NA18860, NA19916, NA19352, NA19313, NA19138, NA19681, NA21510, NA21370, NA19038, NA19383, NA18874, NA21512, NA21454, NA19137, NA19915, NA19371, NA19385, NA21632, NA21478, NA20343, NA19159, NA20347, NA19901, NA19189, NA21601, NA19209, NA21634, NA19456, NA19451, NA19200, NA21494, NA21599, NA21480, NA19247, NA19210, NA19437, NA18934, NA21682, NA12003, NA19152, NA18859, NA19391, NA19788, NA18503, NA19097, NA20344, NA10838, NA21485, NA19179, NA19221, NA19118, NA19449, NA18499, NA21826, NA19031, NA21678, NA19113, NA21578, NA18853, NA20282, NA19101, NA19257, NA19225, NA19756, NA21583, NA19095, NA21573, NA19094, NA18914, NA19206, NA19183, NA19918, NA18909, NA21719, NA19108, NA20295, NA21527, NA19473, NA19435, NA19240, NA19174, NA19380, NA19144, NA21733, NA21740, NA21647, NA19919, NA19439, NA21615, NA19310, NA19467, NA19193, NA18869, NA18911, NA20333, NA19376, NA19143, NA21379, NA20348, NA19109, NA19248, NA21580, NA19438, NA20582, NA19173, NA19713, NA18500, NA12830, NA18506, NA19096, NA18854, NA21312, NA19213, NA21389, NA21385, NA21509, NA21490, NA18852, NA18505, NA19224, NA19146, NA19139, NA18511, NA21514, NA20363, NA19153
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)esv2421845
Frequency
Sample Size1184
Observed Gain0
Observed Loss327
Observed Complex0
Frequencyn/a


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