A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421857



Internal ID7905619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:25262655..25335721hg38UCSC Ensembl
Innerchr1:25589146..25662212hg19UCSC Ensembl
Innerchr1:25461733..25534799hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg3873067
hg1973067
hg1873067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5105085, essv5136938, essv5106367, essv5073403, essv5106123, essv5012855, essv5026565, essv5028311, essv5106070, essv5022144, essv5093377, essv5145980, essv5117026, essv5154564, essv5125283, essv5067157, essv5039765, essv5066670, essv5139596, essv5002344, essv5026235, essv5087858, essv5018521, essv5089622, essv5115091, essv5152955, essv5033915, essv5025216, essv5037110, essv5156244, essv5021910, essv5057948, essv5122788, essv5152554, essv5116489, essv5107616, essv5003226, essv5014447, essv5047250, essv5130611, essv5136383, essv5125105, essv5062085, essv5079399, essv5081685, essv5085137, essv5145360, essv5055329, essv5079981, essv5111829, essv5138232, essv5044887, essv5120740, essv5016021, essv5059254, essv5015901, essv5123095, essv5008221, essv5053235, essv5147945, essv5046501, essv5147588, essv5017565, essv5157623, essv5003311, essv5099909, essv5029065, essv5123139, essv5129477, essv5129683, essv5144277, essv5088003, essv5118896, essv5136889, essv5147815, essv5125039, essv5109110, essv5089551, essv5116864, essv5054446, essv5040974, essv5015825, essv5041714, essv5047152, essv5050184, essv5037674, essv5016506, essv5094025, essv5109647, essv5141412, essv5145086, essv5064974, essv5131476, essv5138177, essv5037645, essv5013628, essv5048844, essv5132018, essv5149063, essv5022767, essv5124283, essv5147272, essv5009261, essv5045453, essv5058217, essv5146020, essv5150619, essv5133133, essv5128183, essv5121511, essv5050338, essv5069482, essv5157836, essv5058426, essv5151355, essv5053175, essv5154775, essv5059333, essv5095663, essv5113590, essv5158180, essv5023035, essv5004315, essv5036702, essv5024213, essv5133677, essv5149523, essv5092242, essv5049893, essv5004352, essv5135986, essv5095554, essv5073065, essv5023208, essv5046014, essv5087504, essv5063196, essv5158896, essv5159485, essv5024154, essv5050776, essv5082433, essv5140020, essv5056096, essv5082163, essv5147235, essv5088678, essv5014510, essv5145070, essv5025268, essv5012871, essv5020838, essv5083652, essv5002183, essv5152069, essv5160623, essv5097618, essv5124582, essv5003958, essv5020784, essv5025505, essv5033550, essv5108293, essv5028430, essv5065928, essv5127709, essv5011384, essv5133792, essv5058796, essv5066801, essv5034606, essv5108066, essv5030807, essv5054650, essv5077667, essv5007066, essv5009459, essv5059401, essv5156202, essv5124430, essv5124630, essv5035986, essv5065371, essv5065734, essv5090060, essv5137440, essv5094217, essv5114255, essv5128345, essv5058769, essv5094802, essv5025353, essv5130404, essv5044349, essv5063006, essv5042292, essv5150816, essv5016090, essv5055292, essv5128108, essv5130660, essv5075759, essv5130794, essv5137751, essv5007672, essv5113628, essv5116136, essv5151593, essv5044859, essv5089478, essv5158031, essv5082883, essv5002879, essv5091462, essv5142656, essv5080281, essv5067947, essv5113984, essv5012416, essv5143138, essv5025602, essv5056058, essv5069190, essv5028365, essv5078911, essv5158872, essv5047169, essv5105366, essv5057263, essv5140307, essv5076093, essv5078460, essv5027267, essv5040904, essv5058251, essv5130187, essv5143595, essv5114671, essv5076833, essv5051480, essv5113423, essv5091094, essv5007440, essv5083463, essv5141824, essv5080575, essv5060529, essv5153490, essv5033778, essv5130239, essv5142820, essv5008097, essv5080406, essv5082929, essv5143932, essv5024612, essv5047766, essv5152295, essv5047974, essv5116211, essv5118565, essv5055335, essv5057653, essv5097823, essv5146558, essv5070189, essv5153623, essv5133094, essv5134935, essv5142111, essv5030906, essv5089045, essv5037893, essv5091441, essv5070008, essv5108701, essv5120048, essv5159704, essv5048811, essv5105392, essv5010391, essv5010813, essv5099229, essv5043793, essv5087709, essv5053389, essv5113903, essv5039122, essv5010857, essv5016370, essv5055624, essv5134564, essv5067460, essv5147839, essv5157141, essv5115319, essv5047101, essv5078382, essv5128808, essv5058514, essv5026739, essv5035013, essv5080950, essv5024098, essv5068330, essv5076799, essv5124398, essv5073133, essv5003442, essv5088421, essv5094386, essv5138781, essv5042185, essv5034343, essv5053567, essv5157994, essv5039265, essv5096398, essv5009799, essv5122226, essv5059195, essv5137308, essv5018506, essv5119807, essv5122105, essv5109954, essv5158850, essv5029243, essv5017143, essv5032861, essv5056082, essv5148164, essv5110081, essv5135855, essv5056633, essv5112124, essv5118360, essv5134977, essv5046028, essv5038039, essv5157677, essv5111192, essv5002155, essv5128978, essv5016991, essv5034340, essv5022476, essv5121794, essv5023178, essv5065254, essv5078218, essv5003366, essv5037688, essv5132115, essv5005217, essv5151764, essv5045154, essv5130740, essv5133513, essv5079054, essv5088120, essv5118643, essv5033012, essv5109869, essv5017876, essv5155256, essv5111735, essv5085338, essv5142370, essv5017327, essv5153011, essv5046481, essv5003234, essv5122992, essv5090256, essv5128172, essv5024116, essv5072538, essv5113393, essv5116093, essv5076452, essv5064492, essv5079059, essv5139792, essv5008817, essv5096259, essv5141369, essv5014537, essv5009382, essv5131302, essv5155647, essv5065634, essv5098695, essv5091674, essv5151146, essv5066634, essv5007583, essv5018977, essv5032508, essv5125910, essv5108756, essv5064696, essv5048597, essv5033301, essv5068241, essv5080467, essv5004232, essv5059029, essv5021447, essv5105430, essv5158951, essv5014373, essv5017260, essv5049421, essv5135218, essv5135973, essv5033407, essv5054376, essv5150897
SamplesNA10859, NA19146, NA12154, NA12818, NA12489, NA19194, NA20787, NA19214, NA21441, NA18520, NA20771, NA21353, NA21390, NA19192, NA21631, NA21113, NA21473, NA18871, NA19819, NA12342, NA07349, NA20752, NA11920, NA20851, NA19209, NA12347, NA20796, NA18526, NA10839, NA11918, NA21575, NA20888, NA12815, NA19435, NA21718, NA20759, NA18516, NA12707, NA20902, NA06993, NA21423, NA12828, NA19109, NA21825, NA20894, NA12005, NA18546, NA19379, NA21104, NA10853, NA18507, NA20319, NA20539, NA10855, NA18994, NA20897, NA19685, NA19686, NA20277, NA07029, NA10837, NA20861, NA19236, NA12766, NA20755, NA19143, NA17993, NA19140, NA20284, NA20896, NA21090, NA20505, NA11919, NA12763, NA19211, NA19650, NA20875, NA20849, NA11839, NA11840, NA12753, NA18154, NA19309, NA20811, NA21488, NA19828, NA19107, NA20530, NA18636, NA12273, NA12761, NA10852, NA18609, NA21647, NA18497, NA11843, NA11831, NA12400, NA19075, NA21738, NA19181, NA12234, NA19700, NA21399, NA12144, NA20847, NA21102, NA12751, NA19380, NA12145, NA07346, NA18640, NA12716, NA18515, NA19680, NA20760, NA12348, NA19716, NA20345, NA21339, NA19102, NA20884, NA21107, NA20852, NA21141, NA19176, NA20540, NA19154, NA21574, NA18102, NA19901, NA12057, NA21648, NA10856, NA12872, NA19175, NA20350, NA21303, NA21381, NA19237, NA18613, NA19001, NA20290, NA20797, NA19221, NA21100, NA21475, NA20766, NA12283, NA19131, NA19382, NA21092, NA20813, NA06997, NA20879, NA19141, NA20891, NA20360, NA18159, NA18940, NA20858, NA21103, NA21401, NA11832, NA20297, NA21101, NA12891, NA12890, NA20333, NA07055, NA18552, NA20534, NA21635, NA12272, NA20756, NA19794, NA18599, NA18955, NA20911, NA19078, NA20276, NA06991, NA20332, NA06984, NA18867, NA19193, NA21601, NA12375, NA12413, NA18872, NA20518, NA12156, NA12386, NA06995, NA20873, NA10835, NA18631, NA17980, NA20289, NA20287, NA21402, NA19132, NA10830, NA21480, NA20509, NA07022, NA12878, NA18614, NA19649, NA19778, NA21089, NA20317, NA11830, NA11992, NA12003, NA18946, NA20846, NA19749, NA21424, NA19327, NA21117, NA10838, NA11993, NA21405, NA12546, NA12842, NA21436, NA21583, NA12248, NA18571, NA20288, NA20543, NA12817, NA19118, NA12045, NA20792, NA21356, NA19095, NA11829, NA19171, NA20335, NA20768, NA20904, NA20528, NA12874, NA21105, NA19350, NA19079, NA20524, NA06994, NA18615, NA20870, NA21391, NA12832, NA19448, NA20538, NA21091, NA21302, NA12335, NA19200, NA19661, NA20519, NA11917, NA18519, NA19202, NA20279, NA20899, NA12775, NA19746, NA10864, NA19659, NA21636, NA07031, NA10854, NA10831, NA12827, NA18122, NA18964, NA18863, NA12043, NA18861, NA10843, NA21490, NA11930, NA12344, NA07037, NA20522, NA20809, NA21524, NA20349, NA20859, NA12802, NA20785, NA21367, NA19222, NA21678, NA20506, NA07056, NA19173, NA19174, NA12752, NA20516, NA21478, NA21123, NA21599, NA18869, NA20343, NA21404, NA20871, NA21600, NA06989, NA12340, NA20775, NA11931, NA19317, NA20808, NA21435, NA19203, NA19751, NA21118, NA20529, NA20342, NA21403, NA20778, NA20786, NA19782, NA21371, NA21386, NA18855, NA18484, NA20900, NA21385, NA20363, NA12776, NA18157, NA19678, NA11893, NA20895, NA21295, NA21489, NA18488, NA19474, NA18704, NA12341, NA12044, NA12376, NA19776, NA19654, NA20586, NA20770, NA19117, NA11882, NA20761, NA20854, NA12843, NA20885, NA19054, NA12056, NA21137, NA20819, NA12282, NA20356, NA19652, NA12336, NA19662, NA12383, NA18960, NA12864, NA07357, NA19900, NA20504, NA20908, NA12873, NA20783, NA21301, NA12343, NA20801, NA20807, NA20754, NA12740, NA21359, NA19066, NA20541, NA20765, NA20882, NA12829, NA20336, NA19773, NA19658, NA20892, NA12830, NA21144, NA20589, NA19684, NA20773, NA21115, NA12006, NA07045, NA12708, NA21740, NA21143, NA18518, NA18620, NA19122, NA19653, NA19172, NA21333, NA19703, NA19094, NA19375, NA20512, NA06985, NA19206, NA21717, NA19784, NA20826, NA21434, NA20334, NA20344
Known GenesRHD
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)esv2421857
Frequency
Sample Size1184
Observed Gain0
Observed Loss419
Observed Complex0
Frequencyn/a


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