A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2662864



Internal ID9928969
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:112581581..112582643hg38UCSC Ensembl
chr12:113019385..113020447hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381063
hg191063
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5527503, essv6115411, essv5411424, essv5935415, essv6418017, essv6595950, essv5621302, essv5676133, essv5912728, essv5557339, essv6166791, essv6022427, essv5960047, essv6072105, essv6047702, essv6290818, essv6403906, essv5796223, essv5722033, essv5512317, essv5641463, essv5512589, essv6286321, essv6440319, essv6108322, essv6399341, essv6194774, essv5721704, essv6494221, essv5519358, essv5400441, essv5848874, essv6558998, essv6439842, essv5785018, essv6160027, essv6184883, essv6472636, essv5666668, essv6096506, essv6100470, essv5829611, essv6200713, essv6138655, essv6255488, essv6169129, essv6311142, essv6270932, essv5451095, essv6018713, essv5844832, essv5738205, essv5440564, essv5972422, essv5398249, essv6279766, essv5404903, essv6399104, essv6062965, essv6005714, essv5796868, essv6059612, essv6274297, essv6138254, essv5705770, essv6154201, essv6388642, essv5822700, essv6207932, essv5848309, essv5813086, essv5449743, essv6475892, essv5970037, essv5772947, essv6003265, essv5624289, essv6477293, essv6483233, essv5607642, essv6107638, essv6584318, essv6038189, essv5986068, essv5789551, essv5636289, essv5484602, essv5451859, essv5760774, essv6070937, essv5402728, essv6387872, essv6568428, essv6230820, essv5428309, essv6108648, essv5977144, essv5628563, essv6021427, essv6435255, essv5704868, essv6362457, essv5880176, essv5433267, essv6191242, essv6031205, essv6585425, essv5542686, essv6266671, essv6002043, essv6199017, essv6432533, essv6528105, essv5913266, essv5460241, essv5968068, essv6424838, essv5443695, essv6297763, essv6222027, essv6179367, essv6106841, essv6320903, essv6059500, essv5495744, essv6360787, essv6304695, essv6490553, essv6422600, essv6419682, essv5633643, essv6376421, essv5787207, essv6316562
SamplesHG01060, HG00114, NA19700, NA12842, NA12286, HG00524, NA12273, NA19704, HG01188, NA18486, NA19777, NA18504, NA20332, HG00737, NA20808, HG01461, NA19190, HG01051, NA19920, HG00261, HG01140, NA18627, NA19107, NA20814, HG00138, NA19381, NA19379, HG01366, HG00501, NA19382, NA19762, NA19448, HG00448, NA18635, NA19313, NA19904, NA19384, NA19130, HG00139, NA12275, NA19720, NA20518, HG00148, NA20819, HG00236, HG01495, NA20340, NA19372, NA19471, NA19087, NA12889, NA19722, NA19002, HG00118, HG01198, NA18557, NA19456, NA19445, HG00326, HG00323, NA18867, NA19921, HG01353, NA12777, HG00154, NA19247, NA19657, HG00443, HG00268, HG00266, HG00183, HG01187, NA19707, NA18934, HG01384, NA19403, NA12342, HG01095, NA19391, NA18516, NA18579, NA18910, NA19776, HG00708, NA18907, NA19449, HG01383, NA19453, HG00140, HG00152, NA19395, NA20542, HG01075, NA20765, NA20296, HG00476, NA19440, NA19390, NA18961, NA19712, NA19434, NA18628, NA12272, NA19444, NA19380, NA07051, HG01375, NA19334, NA19467, HG01137, NA20803, NA19360, HG00256, NA18615, HG00125, NA19376, HG00111, HG00312, NA19472, NA19779, HG00329, HG00174, NA20510, HG00310, HG00131, NA11843, NA18983, NA19661, HG00472, NA19430, HG01082, NA19312, NA19346, NA18577
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2662864
Frequency
Sample Size1151
Observed Gain0
Observed Loss134
Observed Complex0
Frequencyn/a


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