A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3601547



Internal ID6641802
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 Variantsdgv1018e214
Supporting Variantsessv11542169, essv11542315, essv11542249, essv11542341, essv11542288, essv11542221, essv11542339, essv11542105, essv11542238, essv11542091, essv11542399, essv11542396, essv11542276, essv11542261, essv11542258, essv11542159, essv11542135, essv11542149, essv11542108, essv11542110, essv11542107, essv11542235, essv11542309, essv11542285, essv11542357, essv11542300, essv11542231, essv11542097, essv11542362, essv11542372, essv11542116, essv11542081, essv11542302, essv11542128, essv11542385, essv11542280, essv11542316, essv11542087, essv11542174, essv11542241, essv11542213, essv11542337, essv11542384, essv11542186, essv11542354, essv11542115, essv11542353, essv11542342, essv11542099, essv11542245, essv11542084, essv11542296, essv11542254, essv11542120, essv11542170, essv11542211, essv11542306, essv11542351, essv11542328, essv11542065, essv11542324, essv11542400, essv11542336, essv11542390, essv11542194, essv11542096, essv11542292, essv11542359, essv11542273, essv11542408, essv11542133, essv11542176, essv11542064, essv11542311, essv11542343, essv11542298, essv11542293, essv11542215, essv11542126, essv11542098, essv11542069, essv11542257, essv11542387, essv11542230, essv11542166, essv11542102, essv11542113, essv11542083, essv11542093, essv11542090, essv11542086, essv11542398, essv11542089, essv11542345, essv11542291, essv11542377, essv11542117, essv11542239, essv11542193, essv11542358, essv11542237, essv11542312, essv11542259, essv11542265, essv11542138, essv11542270, essv11542177, essv11542191, essv11542077, essv11542356, essv11542129, essv11542393, essv11542346, essv11542243, essv11542181, essv11542210, essv11542327, essv11542076, essv11542228, essv11542178, essv11542154, essv11542305, essv11542164, essv11542347, essv11542308, essv11542272, essv11542173, essv11542132, essv11542079, essv11542333, essv11542392, essv11542180, essv11542279, essv11542066, essv11542299, essv11542283, essv11542382, essv11542322, essv11542234, essv11542067, essv11542389, essv11542075, essv11542073, essv11542068, essv11542367, essv11542095, essv11542187, essv11542371, essv11542301, essv11542214, essv11542082, essv11542317, essv11542256, essv11542114, essv11542340, essv11542101, essv11542130, essv11542220, essv11542277, essv11542168, essv11542204, essv11542208, essv11542151, essv11542252, essv11542209, essv11542225, essv11542284, essv11542310, essv11542319, essv11542218, essv11542201, essv11542374, essv11542361, essv11542155, essv11542189, essv11542182, essv11542198, essv11542185, essv11542131, essv11542365, essv11542282, essv11542190, essv11542144, essv11542267, essv11542348, essv11542275, essv11542140, essv11542137, essv11542397, essv11542223, essv11542260, essv11542175, essv11542072, essv11542183, essv11542323, essv11542156, essv11542321, essv11542248, essv11542314, essv11542271, essv11542286, essv11542263, essv11542227, essv11542226, essv11542229, essv11542240, essv11542179, essv11542247, essv11542142, essv11542217, essv11542395, essv11542136, essv11542264, essv11542106, essv11542195, essv11542289, essv11542080, essv11542242, essv11542373, essv11542349, essv11542206, essv11542118, essv11542094, essv11542147, essv11542379, essv11542278, essv11542203, essv11542153, essv11542157, essv11542109, essv11542125, essv11542088, essv11542332, essv11542224, essv11542233, essv11542197, essv11542092, essv11542158, essv11542250, essv11542380, essv11542364, essv11542251, essv11542329, essv11542148, essv11542326, essv11542162, essv11542160, essv11542171, essv11542369, essv11542269, essv11542244, essv11542335, essv11542394, essv11542366, essv11542232, essv11542350, essv11542200, essv11542071, essv11542111, essv11542290, essv11542161, essv11542078, essv11542304, essv11542307, essv11542255, essv11542330, essv11542331, essv11542334, essv11542150, essv11542381, essv11542318, essv11542134, essv11542070, essv11542143, essv11542378, essv11542363, essv11542100, essv11542216, essv11542375, essv11542368, essv11542246, essv11542222, essv11542325, essv11542281, essv11542085, essv11542236, essv11542219, essv11542167, essv11542404, essv11542401, essv11542104, essv11542123, essv11542163, essv11542199, essv11542196, essv11542274, essv11542266, essv11542103, essv11542262, essv11542121, essv11542407, essv11542383, essv11542127, essv11542403, essv11542287, essv11542152, essv11542406, essv11542074, essv11542145, essv11542124, essv11542212, essv11542355, essv11542388, essv11542139, essv11542320, essv11542192, essv11542207, essv11542268, essv11542146, essv11542402, essv11542313, essv11542295, essv11542122, essv11542294, essv11542112, essv11542184, essv11542386, essv11542119, essv11542202, essv11542405, essv11542165, essv11542370, essv11542338, essv11542205, essv11542352, essv11542188, essv11542344, essv11542253, essv11542303, essv11542172, essv11542360, essv11542297, essv11542391, essv11542376, essv11542141
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)esv3601547
Frequency
Sample Size2504
Observed Gain345
Observed Loss0
Observed Complex0
Frequencyn/a


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