A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664484



Internal ID9930589
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:17893417..17894907hg38UCSC Ensembl
chr8:17750926..17752416hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg381491
hg191491
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5839167, essv6421500, essv6394003, essv5443414, essv6151448, essv6118240, essv5593680, essv6289251, essv6032583, essv6461087, essv5939823, essv5399602, essv5564445, essv6074061, essv6542302, essv5642720, essv6575758, essv5480989, essv5818155, essv5447355, essv6086942, essv5578342, essv5805656, essv6024220, essv5471394, essv5757563, essv5465537, essv6397804, essv6214146, essv5742773, essv6502508, essv5482384, essv6310207, essv6079326, essv6592522, essv6246054, essv6200784, essv5980426, essv6496063, essv5510802, essv6591798, essv6520845, essv5998264, essv6359869, essv5525003, essv5439868, essv5418763, essv6167546, essv6056809, essv5888678, essv6308755, essv5438506, essv6515833, essv5696148, essv6566399, essv5714536, essv6080115, essv5789343, essv6479164, essv6170118, essv5853513, essv5703982, essv6528376, essv5868494, essv6248772, essv6490122, essv6361289, essv5680248, essv5633161, essv6409814, essv6331747, essv5790452, essv6337704, essv6564581, essv6222071, essv6156377, essv5431152, essv6114848, essv6286341, essv5849625, essv6500178, essv6226228, essv6071861, essv5981319, essv6574761, essv6350456, essv6199549, essv6480425, essv6395201, essv6529728, essv6198009, essv5641513, essv6226361, essv5912219, essv6323077, essv6563022, essv5962094, essv5404045, essv6158334, essv5444476, essv6414340, essv5840754, essv6220358, essv6572748, essv6225200, essv5690277, essv6114512, essv5638278, essv5446730, essv6150248, essv5676503, essv6465894, essv6446323, essv6066889, essv6283143, essv6589407, essv6435811, essv5585508, essv6178092, essv5416885, essv6293917, essv6210262, essv6109917, essv5744020, essv6099672, essv6220569, essv6231920, essv5439100, essv5587248, essv6191767, essv5595922, essv5429157, essv6148119, essv6192987, essv6258731, essv6509652, essv6182363, essv5428036, essv6203284, essv5612554, essv5973778, essv5949869, essv5406979, essv5921451, essv6124771, essv5581951, essv5567705, essv6077800, essv5545453, essv6141411, essv6559065, essv6418826
SamplesNA19394, NA19701, NA19058, NA19055, NA19909, NA19466, NA19399, NA19914, NA19332, NA19704, NA18999, NA19350, NA19359, NA20294, NA19355, NA19819, NA19393, NA19057, NA19377, NA12058, NA20346, HG00177, NA19443, NA19067, NA18988, NA19446, NA19381, NA19076, NA19379, NA18944, NA19315, HG01167, NA18982, HG00330, NA18942, NA19062, HG00346, NA19088, HG00247, NA20287, NA19904, NA19384, NA18964, NA20291, NA19079, NA19404, NA19383, HG00335, NA18977, NA19917, NA19371, NA19075, NA19471, NA19317, NA19087, NA19002, NA19901, NA19725, NA18990, NA18985, NA19456, NA19445, NA20127, HG00323, NA19921, NA19451, NA19007, NA19908, NA19707, NA19056, NA19403, NA19077, NA19462, NA19347, NA18933, NA18956, NA19455, NA19236, NA19982, NA19081, NA12718, NA18981, NA19064, HG00273, NA19461, NA19449, NA19084, NA19453, HG01101, HG00140, NA20282, NA19059, HG01334, NA19009, NA19452, NA18963, NA19469, NA19395, NA19625, NA19401, NA19375, NA19440, NA19390, NA19834, NA19712, NA19434, NA19473, NA19072, NA18950, NA18941, NA19444, NA19331, NA19380, NA19010, NA19835, NA19334, NA19439, NA19470, NA19428, NA19467, NA19083, NA18943, NA20281, NA19085, HG00125, NA19818, NA19398, NA19078, NA20348, NA19248, NA18971, NA19438, NA19472, NA19060, HG00329, NA18987, NA19468, NA19713, NA19474, NA19080, NA19711, NA19900, NA18983, NA18984, NA19430, NA18989, NA19004, NA19312, NA19463, HG00554, NA19429, NA19074
Known GenesFGL1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664484
Frequency
Sample Size1151
Observed Gain0
Observed Loss152
Observed Complex0
Frequencyn/a


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