A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv682e199



Internal ID22758455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:16131223..16134170hg38UCSC Ensembl
chr2:16271345..16274292hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg382948
hg192948
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2665099, esv2674066
SamplesNA20588, NA18502, HG00189, HG00650, NA19058, NA20529, HG00608, NA18621, HG00142, NA18947, NA19664, NA19399, NA12414, NA12843, NA11920, NA11931, HG00257, HG00151, NA18999, HG00233, NA20512, NA12751, NA18504, NA19684, NA19377, HG01461, NA12750, NA20806, NA19067, HG00337, NA12813, NA19446, HG00138, NA19171, HG01350, NA19379, HG00122, NA20798, NA20589, HG01167, NA20756, NA20795, HG01492, NA18618, NA18916, NA07048, NA11918, NA20768, HG01083, HG01365, NA19384, HG00537, HG00243, NA20291, HG00158, HG00281, HG00139, NA20759, NA19720, HG00335, NA20775, HG01519, NA20812, NA18868, NA19172, HG00326, NA20757, HG00323, NA19985, NA18867, NA19789, NA20755, NA19921, HG00137, NA12777, NA20535, NA12489, HG00731, NA20800, NA18538, HG00266, NA20521, HG01095, NA20810, NA20760, NA19717, HG00344, NA19081, HG01498, NA12718, NA20519, NA18572, NA18948, NA18548, NA18907, NA18537, HG01047, HG01102, NA19084, HG00690, HG00404, NA12829, NA11893, HG00331, NA19453, NA18532, NA06989, NA19059, HG01334, NA19452, NA19682, NA18523, NA19318, NA12778, NA19395, HG00126, NA19625, HG01107, NA19729, NA19440, HG00336, NA19256, NA19712, NA19434, HG00580, NA19444, NA19331, NA20520, NA19010, HG01174, NA19470, NA19428, HG00116, NA20281, NA19360, NA12763, HG01342, NA12347, NA19328, NA19779, HG00267, NA18609, NA19102, NA18873, HG00112, NA19770, NA20826, HG00377, HG00274, NA20503, NA18989, NA19129, NA18624, NA18612, NA19429, NA18487, HG01437, NA19431, NA18577, NA11832, NA20772, HG00593, HG00096, HG01060, HG00114, HG01441, NA19648, NA19700, NA18924, NA19466, NA11995, NA18592, HG01359, HG01052, HG01079, HG00100, NA18507, HG01188, NA11933, NA18599, HG01374, HG00306, NA20813, NA18603, NA12045, NA19819, NA12004, NA12058, NA20808, NA20346, HG00150, NA20507, NA19190, NA19098, NA12400, NA12413, NA12341, NA20537, NA19746, NA19660, NA19076, NA18550, HG00251, NA18489, NA19728, NA18595, HG00173, NA19723, NA18635, NA19916, HG00330, NA20769, NA19131, NA18942, HG00736, NA19197, HG01354, NA19313, NA12287, HG00247, NA19054, NA20513, NA19681, NA20336, NA20541, NA12761, HG01134, NA12282, HG00277, NA19651, HG00120, HG00106, HG01170, HG00236, HG00262, NA19719, NA20340, NA19371, NA19075, NA19471, NA19087, NA12889, HG00182, NA19002, NA19725, NA19189, NA18520, HG00338, NA19209, NA12828, HG00178, NA18908, NA18973, NA19451, NA12748, HG00108, NA20818, HG01136, HG00149, NA19247, NA19657, HG01360, HG00183, HG00176, NA19707, NA20787, NA20524, HG01384, NA12342, NA19462, NA19347, NA20809, NA20536, NA19391, NA19327, HG00475, NA19982, HG00584, NA18910, NA20770, NA20344, NA19776, NA19000, NA19655, HG01197, NA18499, HG01383, HG01182, NA20282, NA19225, NA20828, HG00141, NA19160, NA18536, NA20542, NA18576, NA20526, NA20296, NA19685, NA19401, NA20801, HG00119, NA18535, NA11881, NA19834, NA19108, NA18952, NA12775, HG00375, HG01253, HG00136, HG00638, NA07051, NA20504, HG00319, HG01108, NA20803, HG00256, HG00125, NA20341, NA19759, NA19376, HG00672, NA19248, HG00312, NA20582, NA19472, HG00329, NA18987, NA12749, NA19713, HG00174, NA12830, NA20807, NA19726, HG00343, HG00372, HG00252, HG01377, HG00472, NA07056, NA18505, NA19004, NA20322, HG00345, HG01097, NA18549, HG01191, NA20509, NA19394, NA12383, NA19701, NA20761, HG01173, NA12842, HG00143, NA19909, NA20766, NA12286, HG00242, NA19204, NA18861, NA18508, NA10851, NA12273, NA20783, NA20514, HG01066, NA20816, NA20752, NA20802, HG00244, NA19350, HG00181, NA19359, NA20294, NA19355, NA12340, NA20332, NA18959, HG00737, HG00115, NA18616, NA20517, HG00654, NA19443, HG01051, NA20356, HG00261, NA20771, NA18510, NA12399, NA18602, HG01522, NA18627, HG00271, NA19107, NA20814, NA07346, NA18563, HG00641, NA18519, HG00272, NA19319, HG01351, NA20774, HG01168, NA18567, NA07347, NA19457, HG00334, NA20287, HG00185, NA19904, NA19130, NA11930, NA20539, NA12275, HG01069, HG01080, NA20278, HG00148, NA12156, HG00156, HG00325, NA11932, HG00232, NA19372, NA12044, NA11994, NA19207, HG00705, NA19722, HG00160, HG00118, HG01198, HG01133, NA20127, HG00253, NA18539, NA20753, HG00154, NA19908, HG00268, HG01171, HG00282, NA19403, HG00245, NA18933, HG00732, NA19455, NA20314, HG00583, HG00275, NA18579, NA18871, HG01149, HG00239, HG00740, HG00324, NA19461, NA11919, HG00651, HG00250, NA20581, HG00684, NA18912, HG01101, HG00140, NA18553, HG01497, NA19099, NA19761, NA18555, HG00152, HG00146, NA12144, NA19469, HG00246, NA18858, NA12546, NA18541, HG01075, NA18974, NA12043, HG01148, HG00258, HG00155, HG00254, NA19390, HG00265, NA19147, NA20276, NA19747, HG00353, NA20815, NA19072, NA12272, HG01551, HG00734, HG01357, NA20790, NA20530, NA20527, HG01375, HG00473, NA20792, NA20778, HG00237, NA19679, NA19324, NA19311, HG01113, NA20544, HG01137, HG00418, HG01489, HG00339, NA18501, NA06994, HG00259, HG00342, NA19468, NA19474, NA19093, NA20510, HG00310, NA20786, HG00280, NA11843, NA20758, NA19116, NA19080, NA19780, NA19711, NA19900, NA18983, NA20502, NA19430, NA11892, NA19316, NA19312, HG01125, HG00171, NA18968, NA12890, NA12006, NA19463, NA18623, NA20585, NA19063, NA12154, NA20754, NA19346, HG00553, NA19676, NA18620, HG01516, NA11830, HG01521, HG01098, HG01356, NA20543, HG00231, HG00249, NA11829, HG00361, HG00524, NA19914, NA20531, NA20532, NA18917, HG00640, HG00367, HG00318, NA18486, HG01465, HG00103, NA18545, NA19393, NA20805, NA19777, NA18596, HG01456, NA18606, HG00179, HG00177, NA18870, NA12155, NA07357, HG01140, HG00327, NA19374, HG00127, NA19381, NA20796, HG01366, HG01070, NA19382, NA19762, NA19448, HG01488, NA20586, NA18982, NA19198, NA20317, NA18619, NA12348, NA11992, HG00346, NA12283, NA19771, NA19138, HG00270, NA19782, NA19404, HG01455, HG01067, NA19383, NA18874, NA20819, NA06984, HG01495, NA19917, NA19137, HG01072, NA19731, NA19385, NA19317, NA18986, HG01440, HG00309, HG00427, NA20811, NA19901, HG00159, NA19456, NA19445, NA20533, HG00264, NA11993, NA18614, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, NA19437, HG01187, NA18934, HG00328, NA20505, NA12003, NA19152, HG00190, HG01515, NA19236, NA18516, HG00436, HG00320, HG00533, NA20506, NA20126, HG00619, HG00708, HG00635, HG01390, NA18566, HG01073, HG00273, NA20299, NA19449, NA11894, NA20538, NA18856, HG00117, HG00613, HG00321, NA19338, NA19257, HG00276, NA20534, NA19675, NA18945, HG01204, NA19436, NA20765, NA18546, NA18608, HG00124, NA20773, NA20522, NA18909, HG00285, NA19321, NA18961, HG00366, NA19473, HG00357, NA19435, HG00278, NA19773, NA19144, NA20785, NA12046, NA19334, HG01494, NA19439, NA20516, NA20797, NA07037, NA06986, HG00269, NA19398, HG00111, NA20348, HG01491, NA20334, HG01254, HG01055, HG00123, HG00186, HG00698, HG00131, NA20528, HG01251, NA19661, HG01378, NA19755, HG01082, NA19758, NA18511, NA07000, NA18522, HG01112, HG00554, HG00180, HG01061, NA12776, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv682e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss741
Observed Complex0
Frequencyn/a


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