A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1018e214



Internal ID20122441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:98892259..98896019hg38UCSC Ensembl
chr4:99813410..99817170hg19UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg383761
hg193761
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3601547, esv3601548
SamplesHG00189, NA20761, HG01412, HG00143, HG02002, HG01624, HG00242, NA10851, NA12414, HG03687, NA20514, HG04158, NA12843, HG02231, HG02419, HG00151, NA20512, HG02691, HG01486, NA19684, HG00115, NA20517, HG00097, HG00271, HG04059, NA20814, HG03837, HG01506, HG01350, HG01325, HG00356, HG03770, HG04038, HG00122, HG02690, HG03943, HG03754, NA20798, NA20589, HG01351, NA20774, HG01766, NA20911, HG03913, NA07048, HG01761, NA20822, NA12762, HG00355, HG01365, HG00334, HG00185, NA11930, NA12275, HG02252, NA12156, NA20812, HG00325, NA11994, HG03888, HG01284, HG03947, HG03814, HG01709, HG01121, HG01626, HG00365, NA20755, HG01565, HG01164, HG00349, NA20535, NA20800, HG03685, HG00282, HG01122, NA19670, HG01670, HG01669, HG00360, HG01789, HG00732, HG01684, NA20810, NA20760, HG01879, NA19455, HG01979, HG00132, NA20862, HG03900, HG01498, HG02728, HG01607, HG00239, HG01630, NA20876, HG04235, NA20525, NA20867, NA11919, HG01536, HG03951, NA12829, NA06989, HG03643, HG01101, HG01497, HG02601, HG03969, HG03006, HG02219, HG00246, HG00376, NA12043, HG03720, HG01148, HG00258, NA20799, HG00155, HG04216, HG00254, HG00265, HG02010, HG03708, HG01678, HG03692, HG01551, NA20870, HG03920, NA21095, HG01113, HG00116, NA12763, HG01489, NA12347, NA06994, HG01577, HG02694, HG00381, HG02147, NA21090, HG04014, HG02235, HG00267, HG01302, NA20289, HG01631, HG04171, HG00274, HG00105, NA20502, NA11892, HG00171, NA12006, NA20827, NA20585, NA12154, HG03985, HG01509, HG01776, NA21120, HG00255, HG01507, NA20762, HG03690, HG04212, HG00114, HG00235, NA11830, NA21097, HG00121, HG01356, NA20543, HG00231, NA20877, NA19466, NA11829, HG00361, HG01773, HG00351, HG01052, HG00187, HG01537, HG01079, HG00100, HG03738, HG01280, NA11933, HG03015, HG01970, NA20813, NA12045, HG00367, HG00318, HG01686, HG00364, NA20805, NA19777, NA12058, HG01971, HG00341, NA20507, NA19669, HG01632, HG03944, HG03836, NA12155, NA07357, HG03680, HG01694, NA20846, HG00127, HG02312, NA20796, NA12812, HG01366, HG00251, NA20586, HG01710, NA19649, NA12287, HG00369, NA20513, NA19782, HG01668, HG02786, HG00590, NA20541, HG01893, NA12282, HG03897, HG01398, HG02224, HG01170, HG00262, HG03746, HG01767, HG01369, HG01405, HG03693, HG03744, NA20884, HG03750, HG00178, NA20587, HG03884, NA19451, NA12748, HG01699, HG00260, NA10847, HG00188, HG00149, HG03780, HG03908, HG00183, HG01187, NA20787, NA12342, HG01104, HG02236, HG03760, HG01344, HG01271, HG01515, HG00320, HG04180, HG03919, NA20770, HG02221, HG01447, HG01777, HG01311, HG00273, HG03871, HG01512, NA20299, NA19655, HG00373, NA21141, HG03858, HG00110, HG01707, NA20538, HG01383, HG03740, HG03625, NA12827, HG03854, HG02725, HG00276, HG01679, NA06985, NA20828, HG03991, NA20765, NA20821, HG01363, HG02684, HG00119, NA11881, HG01954, HG00136, HG00278, NA20785, HG01623, HG01494, HG00319, NA20803, NA20797, NA21126, NA21094, HG04003, NA06986, HG03681, HG00125, HG00107, HG01395, HG00111, HG04015, HG03789, NA20582, HG00378, HG01254, HG00123, NA21101, HG04209, HG01089, HG03916, HG00186, HG00234, HG00131, HG01781, HG01105, HG01251, HG00372, NA19661, HG01377, NA07056, HG01775, HG01378, HG04056, HG03698, HG01191
Known GenesEIF4E
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1018e214
Frequency
Sample Size2504
Observed Gain345
Observed Loss0
Observed Complex0
Frequencyn/a


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