A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv569e199



Internal ID20123871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:77487463..77487960hg38UCSC Ensembl
chr17:75483545..75484042hg19UCSC Ensembl
Cytoband17q25.3
Allele length
AssemblyAllele length
hg38498
hg19498
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667045, esv2672897
SamplesHG01357, HG00613, NA19207, NA18870, NA19312, NA12154, NA12489, HG00537, NA18520, HG00619, NA18534, HG01353, NA18530, NA18871, HG00418, HG00328, NA18523, NA19437, NA19114, HG00705, HG00500, HG01173, NA19209, HG00464, NA12347, NA18501, NA19311, NA11918, NA19469, NA19223, NA19435, HG01079, NA18545, NA19319, NA20296, HG00463, HG00657, NA18516, NA19359, HG00614, HG01365, NA19334, NA19331, HG01082, NA18517, NA19449, NA18489, NA19144, NA19379, NA18507, HG00111, HG00581, HG00404, HG00335, HG01101, HG01134, NA19257, NA19236, HG00319, HG00699, NA20322, NA18505, NA19472, NA20803, HG01171, HG00353, NA18949, NA18868, HG01107, NA19463, HG00556, NA11919, NA12763, HG01384, NA19239, HG01375, NA19390, HG00421, NA18635, NA18536, HG00259, NA19197, NA19443, NA18623, NA19471, NA19107, HG01061, HG00692, HG01047, HG00689, NA18636, NA19396, NA20754, NA18856, HG00628, NA19397, NA12761, NA18638, NA18956, NA19398, NA19429, NA19440, HG00338, NA11933, NA18959, HG00533, HG00419, NA18547, HG01360, NA19985, NA11831, NA19256, HG01113, HG01136, NA11894, NA18637, NA18973, NA20520, NA18916, NA18593, NA18982, HG00254, NA19663, NA12830, NA19457, HG00237, HG00343, NA12144, HG00584, NA19316, HG00662, NA19190, NA19213, HG00436, NA19247, NA19360, HG00620, NA19313, NA19377, NA19380, NA19395, HG00108, NA18620, NA19172, NA19189, NA19759, NA12892, NA19372, NA18633, HG00653, NA19374, HG00268, HG00640, HG01066, NA19375, NA19393, NA20126, NA20760, NA19373, NA19384, HG00325, NA18498, NA18923, NA20795, NA18486, NA19102, NA06986, NA18522, NA18510, NA20344, NA18502, NA19119, HG01073, NA18558, NA19098, HG00501, HG00672, NA19901, HG00273, HG00282, HG01170, HG00232, HG01069, HG01356, NA18504, HG00478, NA18858, HG00277, NA19347, HG01351, NA19332, NA18613, HG00513, NA20542, NA19720, HG00329, HG00534, NA18562, NA19131, NA19159, HG01060, NA18910, NA19382, NA18579, NA19318, NA19462, HG00589, NA18606, NA18543, NA18940, NA19235, NA18987, NA18582, NA18597, HG00590, NA19138, NA19376, NA20756, HG00443, NA18599, NA18907, NA18909, NA19391, HG01334, NA20332, HG00650, NA18867, NA19394, NA19403, NA18565, HG00663, NA19116, NA19431, NA20287, NA19434, HG00448, NA18602, NA18577, NA19099, NA19446, HG00654, HG01390, NA19452, NA20507, NA20513, NA18548, NA11830, NA19749, NA19225, NA19327, NA18917, NA11993, NA19399, NA19160, NA18499, HG00422, NA18924, NA19371, NA20543, NA19198, NA18610, NA19470, NA12045, NA11829, NA19130, HG00251, NA19171, NA19240, NA19346, HG00324, NA20528, NA18549, NA18853, NA19204, HG00442, HG01374, HG00473, NA19350, HG00137, HG01102, HG01462, NA19381, NA19473, HG00684, HG01377, NA19758, HG00336, HG00476, NA19448, NA20502, NA19468, HG00702, HG00704, NA18555, NA19200, NA19385, NA20519, NA18519, HG01067, HG01354, HG00327, NA19137, NA18964, HG01515, HG00313, NA19152, HG01518, NA12249, NA18861, NA19436, HG00318, HG00536, HG00607, NA11930, NA07037, NA19321, NA20522, HG01250, HG00100, NA19404, HG01055, NA18952, NA07056, NA18874, NA18612, NA19401, HG00449, HG00310, NA18550, NA18570, NA19072, HG00261, NA18511, NA19455, NA20294, NA18948, NA19317, HG01492, NA19451, NA19338, HG00326, NA18573, NA18542, NA19461, HG00701, HG00557, NA19108, HG00331, NA19355, NA18873, NA19147, NA19438, HG01133, HG01521, HG00256, NA18632, HG00342, HG00321, NA19428, NA18912, NA19383, NA18624, NA18934, HG00250, HG01140, NA18508, HG00583, HG00337, HG00140, NA18576
Known GenesSEPT9
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv569e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss370
Observed Complex0
Frequencyn/a


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