A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2421557



Internal ID7905319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:173619..175654hg38UCSC Ensembl
Innerchr16:223618..225653hg19UCSC Ensembl
Innerchr16:163618..165653hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382036
hg192036
hg182036
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5032067, essv5013584, essv5027307, essv5128605, essv5063753, essv5132842, essv5126166, essv5127609, essv5155540, essv5034373, essv5096454, essv5058450, essv5133701, essv5139116, essv5095275, essv5103283, essv5096807, essv5117739, essv5119880, essv5071551, essv5085202, essv5110509, essv5131769, essv5151870, essv5071261, essv5154394, essv5047219, essv5017113, essv5123269, essv5110147, essv5156561, essv5067249, essv5025222, essv5013303, essv5065596, essv5077875, essv5148511, essv5154025, essv5080775, essv5031422, essv5149248, essv5006644, essv5023490, essv5125902, essv5018765, essv5084164, essv5085040, essv5019891, essv5027268, essv5154923, essv5023654, essv5085581, essv5026325, essv5124961, essv5094127, essv5125413, essv5113321, essv5127948, essv5106855, essv5005708, essv5099956, essv5154483, essv5042923, essv5006301, essv5027022, essv5058932, essv5137973, essv5145408, essv5032844, essv5046047, essv5109264, essv5042908, essv5007086, essv5102082, essv5111944, essv5089766, essv5115182, essv5116060, essv5155106, essv5032042, essv5121730, essv5052020, essv5155484, essv5034701, essv5079950, essv5049525, essv5041261, essv5088901, essv5059088, essv5139882, essv5075802, essv5158860, essv5133479, essv5106757, essv5160365, essv5121246, essv5015512, essv5032311, essv5017630, essv5085904, essv5057943, essv5002901, essv5061811, essv5099032, essv5012257, essv5159345, essv5120451, essv5090418, essv5071663, essv5146227, essv5056784, essv5079849, essv5106329, essv5123104, essv5143541, essv5089139, essv5010386, essv5035894, essv5006275, essv5136882, essv5065589, essv5024756, essv5099265, essv5047575, essv5152613, essv5053312, essv5020459, essv5062582, essv5017790, essv5088867, essv5092037, essv5161014, essv5152806, essv5145791, essv5013447, essv5027243, essv5034415, essv5054232, essv5113505, essv5126203, essv5090560, essv5112616, essv5030844, essv5058079, essv5099718, essv5141165, essv5026381, essv5033525, essv5130097, essv5079377, essv5127659, essv5068460, essv5104906, essv5050110, essv5126989, essv5105980, essv5034726, essv5090261, essv5132573, essv5029729
SamplesNA18503, NA20281, NA19137, NA19146, NA19183, NA19207, NA19152, NA19194, NA18861, NA19436, NA19214, NA18520, NA19352, NA19044, NA07037, NA18914, NA20866, NA19819, NA18933, NA19114, NA19173, NA20906, NA18869, NA18501, NA19093, NA19310, NA19149, NA20346, NA19191, NA18511, NA18859, NA19430, NA19451, NA20816, NA18517, NA19109, NA19184, NA20894, NA21415, NA19379, NA21357, NA20277, NA19915, NA19257, NA18488, NA19236, NA19151, NA20853, NA19226, NA19438, NA18868, NA20340, NA19117, NA21106, NA20284, NA20896, NA19161, NA18912, NA19383, NA19239, NA20819, NA20356, NA21088, NA19390, NA19917, NA19828, NA19443, NA19471, NA19900, NA19107, NA20908, NA18990, NA18930, NA19396, NA19908, NA19182, NA19256, NA19835, NA20282, NA20336, NA18916, NA19036, NA19457, NA19918, NA19190, NA19377, NA18696, NA19122, NA19129, NA19172, NA21333, NA19375, NA19393, NA18498, NA20345, NA18486, NA19102, NA19238, NA21112, NA18510, NA20344, NA21379, NA19215, NA19176, NA19154, NA19139, NA19836, NA20818, NA19237, NA20347, NA19347, NA19332, NA20290, NA20542, NA19159, NA19382, NA19318, NA19711, NA20879, NA19235, NA19038, NA19138, NA19376, NA18909, NA19035, NA20302, NA20332, NA18867, NA19193, NA19394, NA19116, NA19431, NA20337, NA19123, NA20289, NA20287, NA19434, NA21086, NA19452, NA20317, NA11830, NA12003, NA10838, NA18917, NA20288, NA19371, NA19198, NA19916, NA19470, NA19171, NA19240, NA20904, NA18935, NA19381, NA19473, NA19468, NA19456, NA20301, NA19121, NA19439
Known GenesHBA2
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)esv2421557
Frequency
Sample Size1184
Observed Gain0
Observed Loss160
Observed Complex0
Frequencyn/a


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