A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv99e199



Internal ID22757872
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:222199953..222208350hg38UCSC Ensembl
chr1:222373295..222381692hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg388398
hg198398
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2667019, esv2678177, esv2658675, esv2659943, esv2677519
SamplesNA12383, NA18502, HG00189, HG01173, NA12842, NA19703, HG01462, NA20766, NA20508, NA19204, NA18861, NA18508, NA10851, NA19399, NA18565, NA12414, NA12843, NA11931, HG00257, NA18999, HG00233, NA20512, HG00244, NA12751, NA18504, NA12340, NA19684, NA19377, HG00737, HG01051, HG00261, NA20771, NA12750, NA12399, NA18602, HG01522, NA19107, NA12813, NA20814, NA07346, HG00138, NA19373, NA19315, HG01351, HG01177, NA19678, HG01167, HG01168, NA18923, NA20756, NA20795, NA18916, NA18574, NA07048, NA20768, NA18571, HG00185, NA19904, HG00158, HG00281, HG00139, NA20759, NA12275, HG01080, NA20518, HG00335, HG00148, NA12156, HG01519, HG00156, NA18868, HG00325, NA11932, NA12044, NA11994, HG00534, NA19207, NA18990, HG01198, HG01048, HG01133, HG00326, HG00323, NA18539, HG00137, HG00154, NA20535, NA19908, HG00731, HG00443, NA18538, HG00268, HG00266, HG01171, HG00282, NA19056, HG00245, HG00732, HG01095, NA20810, HG00556, HG01498, HG00263, HG00275, NA18579, NA20519, NA18871, HG00551, NA18907, NA18537, HG01047, NA20525, HG01102, NA11919, HG00404, HG00331, NA18912, NA18532, NA06989, HG00140, HG01334, HG00144, NA19761, NA18555, HG00152, HG00146, NA19452, NA12144, NA19469, NA12778, HG00246, HG00126, NA18858, NA12546, NA18953, NA19375, NA19003, HG00258, NA19729, HG00611, HG00155, NA19440, NA18533, NA19390, HG00265, NA19712, NA18564, NA20815, NA19072, NA12272, NA19444, NA19331, NA20790, NA20530, NA20527, NA20792, HG00237, NA19428, NA19311, HG00116, NA20281, NA12763, HG00418, NA18615, NA18610, HG01342, HG00339, NA06994, HG00478, NA19785, NA18631, NA19779, HG00342, NA19716, HG00267, NA19474, HG00310, NA20786, NA20758, NA19116, NA20826, NA19780, NA19900, HG00274, NA19129, NA11892, NA19312, HG01125, HG00171, NA12006, NA12154, NA19065, NA20754, NA19429, NA18577, NA11832, NA20772, HG00096, HG00114, HG01098, NA20543, HG00231, HG00249, NA19466, HG00361, HG01359, HG00524, HG00187, HG01079, NA18561, HG01188, NA11933, HG01389, HG00306, NA20532, NA18917, NA12045, HG00640, HG00367, HG00318, NA18486, NA19393, NA12004, NA20805, NA19777, NA18596, NA12058, HG00179, NA20808, NA19190, NA12155, NA07357, HG01140, NA12341, HG00327, NA20537, NA19068, NA19746, HG00127, NA19660, HG01070, NA19382, NA19762, HG01488, HG00689, HG00448, NA20586, NA19723, NA18982, NA20317, NA19916, HG00330, HG00736, NA11992, NA19197, HG00346, NA19313, NA19088, NA12287, NA19054, HG00270, NA18498, NA19782, NA20541, NA12761, HG01134, HG00277, HG01455, NA19651, HG01067, NA19383, HG00683, NA06984, HG01170, NA18977, HG00262, HG01072, NA19731, NA18617, NA19385, NA19471, NA19317, NA18986, NA12889, HG01440, NA19159, HG00182, NA19002, NA19901, NA19725, NA18520, HG00637, NA19209, NA12828, NA19456, HG00178, HG00419, NA19200, HG00264, NA11993, HG00260, NA11831, NA10847, HG01353, HG00313, HG00133, HG01183, HG00188, NA19247, HG01187, NA19707, NA20787, NA18934, NA20524, HG00328, NA20505, NA12003, HG00428, NA19347, HG00190, NA20809, NA19391, NA19327, HG00475, NA19236, NA18516, NA19982, NA20506, NA20770, HG00619, HG01390, HG01094, HG00273, NA20299, NA19655, HG01197, NA20538, NA18856, NA12249, HG01182, HG00613, HG00525, HG00321, HG00157, NA19257, NA20828, HG00141, NA18536, NA20542, NA20534, NA19675, NA18576, NA20765, NA18546, NA20296, HG00124, NA20801, NA12716, HG00119, NA18909, NA18535, HG01190, NA18543, NA18559, HG00565, NA19473, HG00375, NA19732, NA19435, HG00638, HG00278, NA19773, NA19380, NA20785, NA12046, NA19334, HG00607, NA20504, NA19467, HG00319, HG01108, NA20797, NA07037, NA06986, HG00125, NA19759, NA19376, NA19398, HG00111, NA19438, HG00329, HG01254, HG00174, HG00123, NA20807, HG00343, NA20528, HG00252, HG01377, HG01378, NA19004, HG01082, NA18511, NA07000, NA18522, HG00554, HG01061, NA20509
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)dgv99e199
Frequency
Sample Size1151
Observed Gain0
Observed Loss408
Observed Complex0
Frequencyn/a


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