A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644591



Internal ID6684657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48565592..48572246hg38UCSC Ensembl
chr19:49068849..49075503hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg386655
hg196655
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072816, essv16072825, essv16072811, essv16072834, essv16072827, essv16072833, essv16072824, essv16072876, essv16072808, essv16072800, essv16072856, essv16072864, essv16072806, essv16072848, essv16072868, essv16072837, essv16072796, essv16072823, essv16072819, essv16072846, essv16072872, essv16072801, essv16072870, essv16072850, essv16072839, essv16072853, essv16072862, essv16072815, essv16072859, essv16072865, essv16072841, essv16072863, essv16072860, essv16072844, essv16072799, essv16072873, essv16072858, essv16072809, essv16072869, essv16072803, essv16072852, essv16072874, essv16072810, essv16072807, essv16072822, essv16072861, essv16072817, essv16072842, essv16072798, essv16072828, essv16072843, essv16072835, essv16072820, essv16072829, essv16072857, essv16072830, essv16072855, essv16072813, essv16072818, essv16072831, essv16072836, essv16072845, essv16072851, essv16072840, essv16072821, essv16072866, essv16072832, essv16072805, essv16072847, essv16072871, essv16072795, essv16072867, essv16072875, essv16072797, essv16072849, essv16072878, essv16072877, essv16072826, essv16072838, essv16072854, essv16072804, essv16072802, essv16072814, essv16072812
SamplesHG02470, HG02496, NA19030, NA19445, HG03120, NA19214, HG03279, HG01885, HG02896, NA19455, HG03313, NA19319, HG02943, HG03057, HG02952, HG03046, NA19451, HG03265, HG01432, NA18865, HG02508, HG00553, NA18489, HG03458, HG02676, HG03103, HG03548, HG02323, HG02433, HG03394, HG03039, HG03572, HG03376, NA19428, NA19390, NA19309, HG02861, NA20127, NA18876, HG03520, HG03539, NA18916, NA19324, NA19190, HG02283, HG03126, HG02878, HG02537, HG03195, NA19374, HG02623, HG03097, HG02343, HG02971, NA19704, HG03175, HG02309, HG03108, HG02947, HG03446, HG02923, NA18915, NA20276, NA20332, HG03045, HG03267, HG02628, HG03198, HG02481, NA19446, HG03476, NA19770, HG03343, NA19160, NA20359, NA19916, HG03449, HG03388, HG03515, HG02574, HG03517, NA19200, NA19385, HG02855
Known GenesSULT2B1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644591
Frequency
Sample Size2504
Observed Gain84
Observed Loss0
Observed Complex0
Frequencyn/a


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