A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3647809



Internal ID6687862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:42127947..42137882hg38UCSC Ensembl
chr22:42523949..42533891hg19UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg389936
hg199943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16430385, essv16430391, essv16430506, essv16430411, essv16430424, essv16430514, essv16430402, essv16430531, essv16430421, essv16430368, essv16430527, essv16430480, essv16430433, essv16430369, essv16430517, essv16430484, essv16430375, essv16430471, essv16430532, essv16430446, essv16430454, essv16430483, essv16430508, essv16430444, essv16430502, essv16430376, essv16430488, essv16430535, essv16430533, essv16430521, essv16430524, essv16430438, essv16430387, essv16430503, essv16430456, essv16430386, essv16430396, essv16430445, essv16430536, essv16430460, essv16430439, essv16430470, essv16430442, essv16430518, essv16430427, essv16430435, essv16430501, essv16430487, essv16430500, essv16430466, essv16430539, essv16430485, essv16430495, essv16430415, essv16430404, essv16430405, essv16430451, essv16430461, essv16430476, essv16430371, essv16430409, essv16430426, essv16430512, essv16430522, essv16430455, essv16430528, essv16430406, essv16430515, essv16430478, essv16430477, essv16430529, essv16430417, essv16430423, essv16430486, essv16430377, essv16430459, essv16430469, essv16430453, essv16430496, essv16430463, essv16430413, essv16430410, essv16430378, essv16430422, essv16430493, essv16430441, essv16430497, essv16430416, essv16430388, essv16430523, essv16430475, essv16430519, essv16430448, essv16430383, essv16430489, essv16430499, essv16430520, essv16430381, essv16430450, essv16430494, essv16430400, essv16430393, essv16430468, essv16430447, essv16430472, essv16430420, essv16430464, essv16430425, essv16430408, essv16430384, essv16430530, essv16430449, essv16430412, essv16430452, essv16430457, essv16430538, essv16430504, essv16430511, essv16430437, essv16430394, essv16430516, essv16430395, essv16430397, essv16430436, essv16430482, essv16430379, essv16430513, essv16430462, essv16430498, essv16430403, essv16430372, essv16430481, essv16430382, essv16430525, essv16430373, essv16430440, essv16430434, essv16430399, essv16430419, essv16430429, essv16430414, essv16430467, essv16430473, essv16430537, essv16430380, essv16430389, essv16430428, essv16430432, essv16430443, essv16430431, essv16430505, essv16430458, essv16430430, essv16430418, essv16430526, essv16430465, essv16430392, essv16430474, essv16430491, essv16430398, essv16430370, essv16430390, essv16430492, essv16430407, essv16430507, essv16430401, essv16430374, essv16430510, essv16430534, essv16430479, essv16430509, essv16430490
SamplesHG01747, NA18997, HG01985, NA18502, HG02574, NA20882, HG03857, HG01521, HG02072, HG03378, NA11829, HG03548, NA18861, NA18508, HG02035, NA11931, HG02012, HG00729, NA20321, HG02600, HG03298, HG03455, HG00879, NA20863, NA19314, HG03944, NA12155, HG03950, HG04156, HG03009, HG03572, HG03074, HG03645, HG00356, HG02151, HG03722, HG03808, HG02952, NA20320, HG02485, HG02541, NA18982, HG03937, NA20900, NA20317, HG02299, HG03246, NA19088, NA19138, HG03224, HG01242, NA12761, HG01893, HG03803, HG01069, HG02703, HG03556, HG02573, HG01170, NA18868, NA11932, HG03045, HG01281, NA19385, NA19317, HG01892, NA19036, HG02571, HG01259, HG03380, HG03225, NA20764, NA20355, NA19209, NA18975, NA20127, HG00419, NA20318, NA19921, NA19200, HG03169, HG00260, NA12489, HG03908, HG00443, HG01187, HG01797, HG02334, HG02236, NA18933, HG02678, HG01684, HG04107, HG02144, HG03428, HG02522, NA18910, HG02878, HG01447, HG01777, HG03301, HG01161, NA19461, NA20903, NA19000, HG03476, HG02577, HG03397, NA18853, HG03854, NA19338, HG04152, HG00276, HG01890, HG01708, NA06985, HG00099, NA18945, HG01990, HG01896, NA18974, NA19035, HG03720, HG02455, HG00611, HG04025, HG01190, HG03461, NA19256, NA18517, HG02501, HG01551, NA12873, NA20530, HG03259, HG00631, HG03012, NA19741, NA19083, NA20281, NA19783, HG04003, HG01342, HG02133, NA20357, HG01861, HG04023, HG00707, HG00672, HG00614, HG02971, HG02974, HG02238, HG03066, HG03849, HG02938, HG01783, NA18994, NA19093, NA20786, NA18873, HG02348, HG01914, HG01794, HG02465, HG02284, HG03118, HG02006, HG03439, NA20754, NA19074, HG00362
Known GenesCYP2D6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3647809
Frequency
Sample Size2504
Observed Gain0
Observed Loss172
Observed Complex0
Frequencyn/a


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