A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421689



Internal ID8252137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:17893731..17894650hg38UCSC Ensembl
Innerchr8:17751240..17752159hg19UCSC Ensembl
Innerchr8:17795520..17796439hg18UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38920
hg19920
hg18920
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5069617, essv5055526, essv5002819, essv5122632, essv5097687, essv5034524, essv5111184, essv5061582, essv5037335, essv5075719, essv5043226, essv5024724, essv5016366, essv5113661, essv5059823, essv5040248, essv5034137, essv5037644, essv5005852, essv5149297, essv5053855, essv5155736, essv5112851, essv5011854, essv5158538, essv5060922, essv5093690, essv5003559, essv5016542, essv5110361, essv5159784, essv5002829, essv5023358, essv5137208, essv5043459, essv5130247, essv5116372, essv5159846, essv5137443, essv5132053, essv5032302, essv5120294, essv5077547, essv5035235, essv5058495, essv5049306, essv5151948, essv5160790, essv5132316, essv5130770, essv5010586, essv5153998, essv5119080, essv5085364, essv5069639, essv5013630, essv5087838, essv5029363, essv5132693, essv5048718, essv5111470, essv5059924, essv5102373, essv5016070, essv5068671, essv5116669, essv5027612, essv5051598, essv5028452, essv5003381, essv5065298, essv5006899, essv5032679, essv5005197, essv5157659, essv5112522, essv5071559, essv5064517, essv5035007, essv5022239, essv5015007, essv5117788, essv5159347, essv5075263, essv5138952, essv5158369, essv5068270, essv5102288, essv5031882, essv5145270, essv5065701, essv5032778, essv5149892, essv5046741, essv5136282, essv5156709, essv5097114, essv5079881, essv5104848, essv5036847, essv5011451, essv5128747, essv5089330, essv5021788, essv5029051, essv5003224, essv5132644, essv5119956, essv5158495, essv5157952, essv5055620, essv5100517, essv5112025, essv5090121, essv5040401, essv5145396, essv5087810, essv5086856, essv5068372, essv5131664, essv5132826, essv5069614, essv5064044, essv5124640, essv5054510, essv5112331, essv5039020, essv5093903, essv5008932, essv5148696, essv5149229, essv5076771, essv5026437, essv5130732, essv5118887, essv5086847, essv5031931, essv5075762, essv5034132, essv5010677, essv5133065, essv5131603, essv5029091, essv5106732, essv5072450, essv5026273, essv5006654, essv5160687, essv5055881, essv5106118, essv5141561, essv5018798, essv5014031, essv5132960, essv5135598, essv5114524, essv5099303, essv5092742, essv5050060, essv5040449, essv5029427, essv5107839, essv5097953, essv5146464, essv5051357, essv5031601, essv5068823, essv5025573, essv5109947, essv5017345, essv5014934, essv5087496, essv5139456, essv5013801, essv5065453, essv5110898, essv5062953, essv5062071, essv5014058, essv5082952, essv5078290, essv5059121, essv5021509, essv5061874, essv5008970, essv5101636, essv5151086, essv5111637, essv5059486, essv5046554, essv5077131, essv5031773, essv5154667, essv5016686, essv5103886, essv5023702, essv5068415, essv5122544, essv5047880, essv5041238, essv5024861, essv5128520, essv5090193, essv5081789, essv5025156, essv5003454
SamplesNA19394, NA20284, NA19701, NA19237, NA21686, NA21317, NA19186, NA21089, NA20877, NA12286, NA19466, NA19249, NA19204, NA20300, NA19399, NA20292, NA19914, NA19332, NA21519, NA21436, NA19122, NA19704, NA18935, NA21597, NA20512, NA20294, NA21489, NA19819, NA21648, NA12146, NA19377, NA21741, NA20346, NA18125, NA21693, NA20364, NA19098, NA18870, NA19314, NA21522, NA20894, NA21776, NA21434, NA19446, NA19746, NA19381, NA19379, NA19201, NA21600, NA19902, NA21473, NA19191, NA19119, NA18619, NA21297, NA21479, NA19197, NA12283, NA20288, NA20287, NA19904, NA19384, NA21613, NA20291, NA19130, NA19404, NA21574, NA19383, NA18874, NA17997, NA18868, NA19917, NA19215, NA19137, NA19915, NA19371, NA19235, NA19172, NA19471, NA21632, NA19702, NA19128, NA21478, NA21716, NA20845, NA19901, NA20884, NA19725, NA19189, NA18520, NA21601, NA19239, NA21357, NA19209, NA21442, NA21420, NA19456, NA20127, NA21494, NA20301, NA21480, NA19908, NA19247, NA21414, NA21587, NA20858, NA19120, NA18934, NA21682, NA20297, NA19403, NA21596, NA19462, NA18933, NA18515, NA19184, NA19748, NA18485, NA19236, NA19176, NA18516, NA21300, NA19982, NA19788, NA12718, NA20358, NA19179, NA19221, NA18537, NA21441, NA19114, NA07031, NA19449, NA18499, NA11894, NA19781, NA19750, NA19113, NA21578, NA20282, NA19452, NA10856, NA21316, NA19035, NA21573, NA19727, NA19308, NA21424, NA19390, NA18909, NA11881, NA19115, NA20295, NA19147, NA19712, NA19434, NA12775, NA19435, NA19444, NA19240, NA21425, NA19380, NA21368, NA21647, NA19919, NA19439, NA20504, NA19428, NA19310, NA19467, NA20281, NA19193, NA18911, NA19790, NA20357, NA12708, NA20906, NA19398, NA18484, NA20348, NA20302, NA19705, NA19248, NA19223, NA19779, NA18134, NA19468, NA19828, NA19474, NA18509, NA19185, NA20786, NA19116, NA19900, NA19146, NA18488, NA19775, NA19148, NA19139, NA19463, NA20277, NA20363, NA19214, NA18487, NA19153, NA20509
Known GenesFGL1
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)esv2421689
Frequency
Sample Size1184
Observed Gain0
Observed Loss206
Observed Complex0
Frequencyn/a


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