A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628738



Internal ID6668881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:18570063..18572156hg38UCSC Ensembl
Innerchr12:18570213..18572006hg38UCSC Ensembl
Outerchr12:18569913..18572306hg38UCSC Ensembl
chr12:18722997..18725090hg19UCSC Ensembl
Innerchr12:18723147..18724940hg19UCSC Ensembl
Outerchr12:18722847..18725240hg19UCSC Ensembl
Cytoband12p12.3
Allele length
AssemblyAllele length
hg382094
hg192094
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14400765, essv14400806, essv14400793, essv14400781, essv14400786, essv14400738, essv14400771, essv14400787, essv14400724, essv14400755, essv14400797, essv14400844, essv14400772, essv14400814, essv14400807, essv14400853, essv14400840, essv14400752, essv14400726, essv14400817, essv14400706, essv14400858, essv14400808, essv14400834, essv14400715, essv14400791, essv14400747, essv14400779, essv14400720, essv14400828, essv14400702, essv14400822, essv14400855, essv14400813, essv14400718, essv14400832, essv14400732, essv14400701, essv14400829, essv14400854, essv14400798, essv14400784, essv14400756, essv14400824, essv14400725, essv14400819, essv14400719, essv14400750, essv14400837, essv14400851, essv14400722, essv14400833, essv14400760, essv14400700, essv14400811, essv14400710, essv14400794, essv14400796, essv14400757, essv14400849, essv14400751, essv14400816, essv14400740, essv14400774, essv14400705, essv14400773, essv14400818, essv14400852, essv14400707, essv14400716, essv14400857, essv14400729, essv14400708, essv14400843, essv14400704, essv14400758, essv14400841, essv14400769, essv14400761, essv14400801, essv14400846, essv14400799, essv14400727, essv14400809, essv14400823, essv14400845, essv14400830, essv14400753, essv14400713, essv14400745, essv14400783, essv14400790, essv14400717, essv14400778, essv14400711, essv14400795, essv14400714, essv14400734, essv14400749, essv14400804, essv14400712, essv14400838, essv14400825, essv14400815, essv14400721, essv14400820, essv14400766, essv14400739, essv14400776, essv14400805, essv14400731, essv14400741, essv14400821, essv14400848, essv14400850, essv14400777, essv14400831, essv14400728, essv14400743, essv14400788, essv14400782, essv14400842, essv14400754, essv14400742, essv14400737, essv14400764, essv14400827, essv14400800, essv14400723, essv14400733, essv14400768, essv14400770, essv14400730, essv14400703, essv14400744, essv14400736, essv14400763, essv14400802, essv14400775, essv14400759, essv14400762, essv14400735, essv14400792, essv14400780, essv14400839, essv14400836, essv14400709, essv14400785, essv14400826, essv14400789, essv14400748, essv14400803, essv14400835, essv14400856, essv14400767, essv14400810, essv14400812, essv14400847, essv14400746
SamplesHG02715, HG03136, NA19146, HG02808, HG02107, HG02882, NA19214, NA19026, HG00182, HG02621, HG01700, NA19222, HG03084, NA18523, NA07056, NA18874, NA18501, HG02549, HG03304, HG03196, HG02318, HG03247, NA19435, HG03313, HG02943, HG03452, NA19317, HG02952, HG01956, HG02946, HG01915, NA19338, HG03111, HG03048, HG03298, HG02497, HG02676, HG03294, HG02323, HG01936, HG02805, HG01551, HG02811, HG03376, HG02895, NA19117, HG02982, HG03558, HG02455, HG02420, NA19428, NA19383, HG00346, NA18508, HG02634, HG03193, HG03575, HG03451, HG01392, HG03484, HG02646, HG02716, HG00180, HG02554, NA20530, HG02703, HG01272, HG03436, HG03439, HG02861, NA19397, HG00315, NA19351, HG03464, HG03024, HG03539, HG01879, HG03166, NA19457, HG03114, HG02888, NA19247, NA19360, HG02840, NA19377, HG02325, HG02449, HG02537, HG02054, HG03391, NA19393, NA19206, HG00325, NA18498, NA18486, HG01486, NA20334, NA18502, HG02573, NA19098, HG02501, HG02558, HG03097, HG00232, NA19175, NA18858, HG02511, NA19332, NA20815, HG02852, HG03157, HG03433, HG02307, HG02052, HG01512, NA20355, HG03385, HG03224, HG02281, NA19794, HG02819, HG02635, HG03499, HG02645, HG03009, HG01695, HG03045, HG01269, HG02629, HG03267, HG01893, NA20298, NA20287, HG00311, HG02561, NA19649, HG02252, HG02589, HG02837, HG02891, HG02679, HG02256, HG03025, HG03077, HG03270, HG03449, NA19130, HG03271, NA18853, HG01102, HG02813, HG02860, NA19385, HG02855, HG02095, NA20339, HG03095, HG03091, HG02610
Known GenesPIK3C2G
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628738
Frequency
Sample Size2504
Observed Gain0
Observed Loss159
Observed Complex0
Frequencyn/a


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