A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421526



Internal ID7905288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46166132..46281567hg38UCSC Ensembl
Innerchr10:47537368..47652803hg19UCSC Ensembl
Innerchr10:47007374..47122809hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38115436
hg19115436
hg18115436
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5106931, essv5016459, essv5025945, essv5075122, essv5013065, essv5143408, essv5157088, essv5092526, essv5025801, essv5156210, essv5118363, essv5041138, essv5052160, essv5124341, essv5086291, essv5066453, essv5017862, essv5038093, essv5099045, essv5062218, essv5145938, essv5068978, essv5116145, essv5065281, essv5075449, essv5034672, essv5012338, essv5068526, essv5075810, essv5067829, essv5021201, essv5066495, essv5137417, essv5080590, essv5046973, essv5073980, essv5134057, essv5084241, essv5026517, essv5108045, essv5096865, essv5012209, essv5032831, essv5059696, essv5024652, essv5047512, essv5029299, essv5061233, essv5064274, essv5030561, essv5155154, essv5154194, essv5073701, essv5083432, essv5157692, essv5064977, essv5131193, essv5133761, essv5069638, essv5007276, essv5127308, essv5142106, essv5017444, essv5031191, essv5121717, essv5126490, essv5034352, essv5154944, essv5076363, essv5019341, essv5086314, essv5090112, essv5099720, essv5110296, essv5058076, essv5120389, essv5074085, essv5120751, essv5141612, essv5132198, essv5021854, essv5085675, essv5001989, essv5012812, essv5009233, essv5085547, essv5115690, essv5151290, essv5032696, essv5141383, essv5018627, essv5053439, essv5063206, essv5073116, essv5154247, essv5016365, essv5078040, essv5023048, essv5058793, essv5158148, essv5135243, essv5066397, essv5028656, essv5123825, essv5090072, essv5031552, essv5028609, essv5143463, essv5160155, essv5074606, essv5106540, essv5011339, essv5049445, essv5035736, essv5068835, essv5007798, essv5040368, essv5040697, essv5093538, essv5081400, essv5115556, essv5003883, essv5006574
SamplesNA18503, NA19142, NA20903, NA19248, NA18863, NA19796, NA18861, NA21438, NA20787, NA21441, NA19352, NA21353, NA18951, NA19321, NA20890, NA20907, NA20506, NA12342, NA21776, NA07056, NA21613, NA21599, NA20343, NA18550, NA19455, NA20802, NA18948, NA12813, NA19334, NA21300, NA21479, NA18546, NA20319, NA21454, NA21312, NA19701, NA19474, NA20755, NA20803, NA19147, NA18868, NA20340, NA19140, NA18624, NA18934, NA19148, NA19239, NA12056, NA11840, NA18957, NA19443, NA20757, NA20908, NA12273, NA19429, NA18959, NA21116, NA21477, NA21352, NA20520, NA19324, NA21491, NA21826, NA21442, NA07045, NA19771, NA19372, NA12778, NA19384, NA18486, NA21455, NA19708, NA21308, NA19139, NA18504, NA18748, NA20818, NA21619, NA21784, NA10836, NA21370, NA18125, NA21440, NA06997, NA19141, NA20360, NA21313, NA18159, NA18543, NA18940, NA12739, NA20333, NA07055, NA19138, NA21521, NA21632, NA21476, NA19794, NA21439, NA12749, NA21344, NA20332, NA20799, NA19394, NA21601, NA19009, NA19747, NA18147, NA19452, NA20317, NA21414, NA21722, NA19371, NA19772, NA19470, NA21356, NA20904, NA19204, NA19249, NA17974, NA18519, NA07031, NA10854
Known GenesANTXRLP1
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)esv2421526
Frequency
Sample Size1184
Observed Gain75
Observed Loss48
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer