A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv849e214



Internal ID20122272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:50013481..50024531hg38UCSC Ensembl
chr22:50451910..50462960hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg3811051
hg1911051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3648080, esv3648081, esv3648079
SamplesNA20511, NA18745, HG01985, NA20339, HG00442, HG01402, HG03378, NA18647, HG03111, HG00766, HG00257, NA18979, HG00457, HG02836, NA20802, HG02012, NA18639, HG03298, NA20298, NA18878, HG02050, NA18530, HG03126, HG03515, NA18616, HG03193, NA20863, HG00261, NA18602, HG00337, HG00271, NA19446, NA18563, HG03603, NA19089, NA21135, HG00272, HG03016, NA18597, HG01702, HG02140, NA20320, HG01277, NA21130, NA19307, HG03091, HG02146, HG01766, NA18567, NA18558, HG00129, NA18547, HG03604, HG02860, NA18574, HG02301, NA18582, HG02054, HG00355, NA21108, HG03224, HG01840, HG01372, HG00451, HG03917, NA19079, HG02981, HG02278, HG02131, HG00139, HG00130, NA19923, HG03619, NA19041, HG00867, HG00335, NA21109, NA20775, HG00113, HG01849, NA18748, HG02082, HG01284, HG01844, NA18557, HG02260, NA20355, HG03073, HG01626, NA19025, NA20757, HG00253, NA21105, NA20318, HG02134, NA18645, NA12777, NA18605, NA18747, NA20800, HG00443, HG00268, NA19091, NA18525, NA19006, HG00332, HG03088, HG02380, NA21119, NA19086, NA19984, HG01684, HG04195, NA20760, HG01882, HG02084, HG00556, HG01845, HG01768, HG01142, HG01345, HG02508, HG01675, HG04177, HG01029, NA18548, NA20867, NA18573, NA19461, HG00250, HG00479, HG00350, NA20581, NA19042, NA21112, HG02141, HG02259, NA18532, HG02881, HG01130, NA19752, HG03024, HG02979, NA18555, HG01680, HG00099, HG04176, NA18570, HG01625, HG00376, HG01896, HG03064, HG00407, HG00382, NA18632, NA19652, HG02089, NA21117, NA19440, NA19309, HG00383, NA19149, NA18564, HG03708, HG02088, HG01678, HG01131, HG00353, HG02220, HG00580, HG01685, HG03920, NA19090, NA12873, HG02391, NA18865, HG02232, HG02982, HG00473, NA20792, HG03304, HG01620, NA19083, HG02137, NA18615, NA18610, HG03103, HG01861, HG01086, HG00614, HG00478, NA18631, HG02401, HG00381, HG00259, HG01804, HG03279, HG01846, HG03063, HG03060, NA21133, NA18636, HG01799, HG01600, HG01269, HG02013, NA18876, NA19080, HG04171, HG03077, HG03470, HG01914, HG01794, HG02947, NA19430, NA18957, NA19011, NA18624, HG02351, NA18612, HG03303, HG01805, HG03166, NA19431, NA18577, HG03265, NA18620, HG02760, NA20762, HG01413, NA19700, HG02250, HG00536, NA19794, HG03163, HG01348, HG00524, HG00351, HG01860, NA20274, HG04194, NA18561, NA19704, HG01280, NA19734, NA18599, HG02061, NA18877, NA18603, NA20321, HG01686, HG03190, HG02277, HG00452, NA18596, NA18625, HG04164, NA18606, HG03297, HG02271, HG00341, HG03139, NA18526, NA19314, HG02285, HG01694, HG03095, HG03074, HG03082, NA19076, NA20796, NA18550, HG03086, HG00251, HG02811, HG01682, NA18595, HG02485, HG02087, HG00448, NA18635, HG04144, HG01459, HG00458, HG00330, NA20769, HG01843, HG02130, HG01816, HG03105, HG00851, NA18642, NA19088, HG01982, HG03079, HG03189, HG02067, HG02003, HG01628, HG01281, HG01767, HG01369, HG01046, NA18617, HG00422, HG01673, NA21107, NA12815, HG00309, NA19189, HG03225, HG02104, NA20764, NA18864, HG03583, NA18640, HG02882, HG00419, NA19451, NA18638, HG01699, HG00260, NA21106, NA18614, HG00543, NA18544, HG03054, HG00629, HG02136, HG01841, HG00982, HG02233, HG01797, HG01104, NA19077, HG02090, HG00428, NA19462, NA19347, HG01344, HG02397, HG00475, NA19913, HG04162, NA18939, NA18637, HG01119, HG02968, NA20767, HG02497, HG01808, NA21116, NA18757, NA18566, HG01619, HG03382, HG00956, HG00844, HG03202, NA19031, HG00525, NA19740, NA19320, HG02081, HG04152, HG01679, HG03354, HG00445, HG01990, HG02484, HG01700, HG00128, NA19035, NA18546, NA18608, NA19308, NA21113, HG00476, HG04188, NA18543, NA18559, NA19735, HG02983, HG02064, NA19435, NA19037, NA20351, HG03127, NA19439, NA19310, NA18643, HG02139, NA12874, HG00256, NA19475, NA19078, HG01432, HG00446, HG01917, NA20868, NA19438, HG02238, NA20582, NA19472, HG01556, HG01028, HG00421, HG00378, NA18987, HG02032, HG02053, HG02396, HG02392, HG01085, HG02239, HG00234, NA19096, NA18552, HG01105, HG02051, HG00252, HG01377, HG03611, HG00345, NA20763, HG04161, NA18549, HG02006, HG01923, NA18622, HG01695, HG00978, HG00437, NA18562, HG02060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv849e214
Frequency
Sample Size2504
Observed Gain435
Observed Loss0
Observed Complex0
Frequencyn/a


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