A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv672e214



Internal ID20122095
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54717424..54856116hg38UCSC Ensembl
chr19:55228923..55367571hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38138693
hg19138649
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3644815, esv3644814
SamplesHG02470, HG01357, HG01878, HG02724, HG03697, HG03755, HG01761, NA19248, HG02250, HG03015, HG01440, NA19712, HG02371, NA20527, HG01811, HG00743, HG01302, HG03479, NA20868, HG01089, NA21114, HG01205, HG02655, HG01173, HG00731, HG02727, HG03874, NA19310, HG01105, HG01794, HG02734, HG04096, HG02318, NA18603, HG01624, NA20775, NA12813, HG03663, HG04060, NA19331, HG01816, NA21124, HG03829, HG04186, NA20342, NA19920, HG03746, NA20894, HG01286, HG00739, HG02375, NA21098, NA21135, HG01167, HG04118, NA20588, HG02660, HG01920, HG02790, HG03019, HG04001, NA19648, HG03967, HG01168, HG04214, HG04200, NA20861, HG01961, NA20895, NA19355, HG00319, HG03488, HG04152, NA20755, NA19308, NA20853, NA19147, HG03457, HG03863, HG04061, NA19776, HG03687, HG01521, HG01468, HG03897, HG03752, HG03652, HG02259, HG03667, NA19028, HG03955, HG01550, HG04219, NA20896, HG02775, NA18912, NA19982, HG02684, HG01312, HG02700, HG03779, NA21097, HG03300, NA19309, NA11994, HG01938, HG01756, HG01122, NA19020, NA21127, HG01583, HG01183, HG03442, NA18592, NA18856, HG03787, HG04194, HG03727, HG03844, NA12761, NA18638, HG02016, HG03805, NA20882, HG01501, HG03871, HG01360, HG02348, HG02078, HG01879, HG04099, HG04042, HG03917, HG04063, HG03079, HG03864, NA21144, HG03595, HG03685, HG03848, NA19042, HG03742, HG02224, HG03895, HG04059, HG00742, HG01242, HG02283, HG03169, HG01437, HG01280, NA18537, HG02383, HG04025, NA19372, HG02382, HG00653, HG01191, HG02102, HG02541, NA18498, NA18486, NA06986, NA21112, NA19119, HG01073, HG03931, HG03619, HG03740, HG02651, HG03096, HG04029, NA19347, HG02511, NA19909, HG01494, NA20542, HG01260, HG03645, NA21100, HG04093, HG01060, NA21092, HG01383, HG03738, HG00236, HG02299, NA19462, HG02190, HG03115, HG03943, NA19141, HG00674, HG02026, HG01933, HG02309, NA21101, HG01566, NA19921, HG01809, HG03237, HG03888, NA19794, HG03589, HG04047, NA20827, HG01939, HG02070, NA18538, HG01953, HG03694, NA20518, NA20850, NA20867, NA21109, HG03716, NA19741, HG03367, NA21087, HG01862, HG00580, HG03018, HG04035, HG01390, HG03905, NA19475, HG03594, HG02687, NA11992, NA19041, NA21117, HG01619, HG01947, NA20869, HG03809, HG02089, HG04177, HG03270, HG03718, NA20758, HG02682, HG00623, HG00693, HG02728, HG03850, HG04015, HG03802, NA19204, HG03012, HG01102, HG01462, HG03885, HG04006, NA19473, HG01479, HG02784, HG03517, HG00671, NA19385, NA19750, HG03824, NA20899, NA12775, NA20339, HG03775, HG04107, HG03689, HG03684, HG01372, NA19137, HG02477, NA20874, HG02108, HG01241, HG03785, HG02621, NA21125
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv672e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss277
Observed Complex0
Frequencyn/a


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