A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647458



Internal ID7034199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:25307110..25388958hg38UCSC Ensembl
chr22:25703077..25784925hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3881849
hg1981849
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv830e214
Supporting Variantsessv16394821, essv16394889, essv16394893, essv16394883, essv16394869, essv16394861, essv16394796, essv16394809, essv16394864, essv16394753, essv16394836, essv16394827, essv16394880, essv16394813, essv16394878, essv16394750, essv16394816, essv16394860, essv16394803, essv16394763, essv16394830, essv16394818, essv16394770, essv16394814, essv16394853, essv16394876, essv16394826, essv16394810, essv16394886, essv16394790, essv16394859, essv16394755, essv16394788, essv16394777, essv16394839, essv16394762, essv16394867, essv16394759, essv16394758, essv16394756, essv16394800, essv16394766, essv16394862, essv16394760, essv16394819, essv16394812, essv16394783, essv16394892, essv16394828, essv16394784, essv16394782, essv16394807, essv16394885, essv16394808, essv16394855, essv16394870, essv16394791, essv16394793, essv16394877, essv16394781, essv16394785, essv16394764, essv16394879, essv16394871, essv16394838, essv16394832, essv16394801, essv16394824, essv16394774, essv16394773, essv16394778, essv16394890, essv16394833, essv16394779, essv16394884, essv16394863, essv16394843, essv16394849, essv16394875, essv16394840, essv16394776, essv16394798, essv16394802, essv16394757, essv16394792, essv16394831, essv16394768, essv16394852, essv16394765, essv16394854, essv16394873, essv16394844, essv16394754, essv16394787, essv16394772, essv16394823, essv16394842, essv16394822, essv16394847, essv16394794, essv16394789, essv16394769, essv16394872, essv16394775, essv16394767, essv16394761, essv16394848, essv16394799, essv16394850, essv16394881, essv16394780, essv16394857, essv16394820, essv16394825, essv16394811, essv16394887, essv16394835, essv16394858, essv16394894, essv16394837, essv16394751, essv16394805, essv16394752, essv16394797, essv16394806, essv16394795, essv16394845, essv16394829, essv16394866, essv16394841, essv16394865, essv16394786, essv16394834, essv16394815, essv16394891, essv16394882, essv16394804, essv16394846, essv16394851, essv16394771, essv16394888, essv16394856, essv16394868, essv16394874, essv16394817
SamplesNA19648, HG00592, HG04096, HG02072, HG02385, HG03052, HG01855, HG04194, NA18507, HG02029, NA18599, HG02419, HG02836, HG02600, HG01802, HG03772, HG03895, HG00177, HG02888, HG02688, HG00097, HG01809, HG01873, HG03603, NA20796, HG03943, HG03452, HG03808, HG03490, HG00689, NA19307, NA19723, NA20795, HG02620, NA19916, NA18558, HG03246, NA18642, NA20768, NA19138, HG04070, HG01848, HG03917, NA12761, HG01893, NA20539, NA18749, HG03520, HG00120, NA20278, HG00379, HG03746, HG03777, HG04238, NA20889, NA18864, HG03585, NA18973, HG00419, HG04075, NA19027, HG02716, HG02009, HG02442, HG03785, NA18538, HG01867, HG02793, HG03787, HG02075, HG03907, HG04062, HG02582, HG03760, HG02678, HG01271, NA18956, HG00701, HG04107, NA20810, HG01882, HG03636, HG04162, HG03428, HG03900, HG01498, HG04019, HG01345, HG03805, HG02789, HG03311, HG03382, NA20859, HG03202, NA11894, NA19031, HG03446, NA18532, HG03643, NA19099, HG03854, HG03914, NA06985, NA18523, HG02586, HG02219, HG01572, HG04093, NA19017, HG03720, NA19401, NA19729, HG00382, NA18632, NA18542, HG02282, HG00383, HG00336, HG00285, HG04006, HG04026, HG03367, HG04239, NA20351, HG02274, NA07037, HG02814, HG02181, NA20906, HG04023, HG04140, NA21102, HG02079, HG01254, HG03022, NA21133, NA20510, HG00112, HG04171, HG03538, NA19030, HG03376, HG02805, HG01923, HG03886
Known GenesIGLL3P, LRP5L
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647458
Frequency
Sample Size2504
Observed Gain145
Observed Loss0
Observed Complex0
Frequencyn/a


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