A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421848



Internal ID8252296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2629667..2691811hg38UCSC Ensembl
Innerchr16:2679668..2741812hg19UCSC Ensembl
Innerchr16:2619669..2681813hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3862145
hg1962145
hg1862145
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5064022, essv5006792, essv5107868, essv5105508, essv5140288, essv5153895, essv5064167, essv5044496, essv5027335, essv5035204, essv5100404, essv5149506, essv5078651, essv5093455, essv5106258, essv5086906, essv5054652, essv5150710, essv5021383, essv5036348, essv5029704, essv5132337, essv5110440, essv5041447, essv5091700, essv5099293, essv5024166, essv5123575, essv5081185, essv5079065, essv5125333, essv5104420, essv5098200, essv5130516, essv5116443, essv5109395, essv5103512, essv5039593, essv5145959, essv5064301, essv5112368, essv5107202, essv5025764, essv5160343, essv5113370, essv5095964, essv5099508, essv5090947, essv5153996, essv5138810, essv5042638, essv5018060, essv5156817, essv5133775, essv5114754, essv5128484, essv5102861, essv5094102, essv5042610, essv5148101, essv5094578, essv5022621, essv5063757, essv5003294, essv5030628, essv5139636, essv5094788, essv5073702, essv5101867, essv5039416, essv5155308, essv5091330, essv5032289, essv5123465, essv5111191, essv5082025, essv5062959, essv5033639, essv5132180, essv5148479, essv5071121, essv5027181, essv5011292, essv5142982, essv5124411, essv5117450, essv5045417, essv5083629, essv5124257, essv5073387, essv5122580, essv5048217, essv5037476, essv5139796, essv5028542, essv5114630, essv5054985, essv5014517, essv5148714, essv5091412, essv5045616, essv5026863, essv5112179, essv5089020, essv5093305, essv5075281, essv5039290, essv5153216, essv5029026, essv5054052, essv5151820, essv5012231, essv5080155, essv5043132, essv5042964, essv5017929, essv5095361, essv5084445, essv5079227, essv5152202, essv5115566, essv5058143, essv5022706, essv5072766, essv5027903, essv5154366, essv5051551, essv5121694, essv5020044, essv5107856, essv5025389, essv5118749, essv5079566, essv5133897, essv5059540, essv5071820, essv5082289, essv5101600, essv5059854, essv5025765, essv5157531, essv5122233, essv5154798, essv5077342, essv5073775, essv5073479, essv5056197, essv5067709, essv5129047, essv5075883, essv5006142, essv5138475, essv5023411, essv5153494, essv5048792, essv5156804, essv5142380, essv5157865, essv5109581, essv5092901, essv5057501, essv5026347, essv5148947, essv5003789, essv5038693, essv5079089, essv5156070, essv5107992, essv5047277, essv5138938, essv5159460, essv5075526, essv5132484, essv5017084, essv5063554, essv5147366, essv5159234, essv5152876, essv5042351, essv5013059, essv5149961, essv5159225, essv5099158, essv5080199, essv5086045, essv5018453, essv5146355, essv5089009, essv5044740, essv5004879, essv5081138, essv5023823, essv5148301, essv5009424, essv5148751, essv5034914, essv5110401, essv5036870, essv5080868, essv5061297, essv5031329, essv5155348, essv5044216, essv5029108, essv5020599, essv5156899, essv5009265, essv5050875, essv5026644, essv5069495, essv5036345
SamplesNA20874, NA20761, NA18139, NA21636, NA21477, NA20853, NA12842, NA21524, NA19794, NA21089, NA11829, NA12273, NA20783, NA20899, NA18166, NA12843, NA21352, NA20531, NA11931, NA20752, NA20873, NA19795, NA18486, NA21717, NA21115, NA12340, NA21475, NA19669, NA21738, NA21635, NA11891, NA20356, NA20771, NA20359, NA12155, NA07357, NA21784, NA18969, NA21776, NA21434, NA19068, NA19746, NA19319, NA20850, NA20589, NA20890, NA19448, NA21526, NA21473, NA20586, NA12336, NA20911, NA20795, NA19916, NA20769, NA19649, NA11992, NA07347, NA19724, NA20768, NA19784, NA19771, NA21353, NA19782, NA18949, NA19760, NA11917, NA12282, NA21574, NA12275, NA19651, NA19199, NA18970, NA21109, NA18977, NA21454, NA12044, NA19677, NA21525, NA10850, NA19471, NA19087, NA12815, NA19722, NA19002, NA21716, NA21523, NA19796, NA21357, NA19708, NA12375, NA19789, NA20335, NA19921, NA11993, NA20818, NA20360, NA12777, NA18951, NA12335, NA20535, NA19247, NA20800, NA21575, NA20879, NA10836, NA12343, NA19462, NA20809, NA20810, NA20760, NA19748, NA20895, NA19683, NA12718, NA12376, NA20875, NA18503, NA20358, NA21438, NA21485, NA18548, NA21308, NA19671, NA21141, NA17999, NA21339, NA11894, NA21826, NA21295, NA20538, NA12249, NA20881, NA20856, NA12239, NA19656, NA12145, NA19718, NA19059, NA21356, NA19682, NA12144, NA20828, NA19756, NA18127, NA21583, NA12778, NA19625, NA20534, NA19675, NA20765, NA21302, NA20799, NA19680, NA21424, NA19652, NA19918, NA18961, NA19747, NA12272, NA20520, NA19380, NA21368, NA21733, NA20790, NA20527, NA19334, NA20792, NA20778, NA20902, NA19679, NA20544, NA19467, NA21582, NA20516, NA12763, NA18615, NA07055, NA19759, NA17995, NA20897, NA19078, NA21364, NA20302, NA21088, NA07349, NA20334, NA19716, NA20852, NA19093, NA20510, NA21455, NA20528, NA21389, NA21303, NA19661, NA18696, NA20502, NA21490, NA18505, NA12006, NA21487, NA07000, NA19063, NA21491, NA21104, NA20908, NA10864, NA10837, NA20898, NA10865
Known GenesERVK13-1, FLJ42627, KCTD5, LOC652276
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)esv2421848
Frequency
Sample Size1184
Observed Gain211
Observed Loss0
Observed Complex0
Frequencyn/a


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