A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675129



Internal ID9941234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:241356016..241357922hg38UCSC Ensembl
Outerchr1:241355645..241358292hg38UCSC Ensembl
Innerchr1:241519316..241521222hg19UCSC Ensembl
Outerchr1:241518945..241521592hg19UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg382648
hg192648
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6483719, essv6533290, essv5429650, essv6314793, essv5425505, essv5774736, essv5651863, essv5781543, essv6535813, essv6506620, essv5948107, essv6542529, essv5946737, essv5791837, essv6269786, essv6525449, essv5602930, essv6034772, essv6236939, essv6457573, essv5429030, essv6256031, essv5879558, essv5614512, essv5753459, essv6196845, essv6595940, essv6444783, essv6021120, essv6370152, essv6294520, essv6410358, essv6292598, essv5888852, essv5472400, essv6474286, essv5755779, essv6455479, essv5826355, essv5646628, essv5689876, essv6501801, essv5979964, essv6481340, essv5817210, essv6225004, essv5523909, essv6282832, essv5528914, essv5904683, essv5889411, essv6459697, essv6350034, essv6158697, essv5995055, essv5843613, essv5635408, essv6209920, essv6205640, essv6572638, essv6350023, essv5515986, essv5664285, essv5643007, essv5404063, essv5568019, essv5886114, essv5846735, essv6369729, essv6022808, essv5578872, essv6526233, essv6269966, essv5486400, essv5867219, essv6332816, essv6266610, essv5973718, essv5609709, essv5707404, essv5822920, essv5701858, essv6159147, essv6322339, essv6381440, essv5698465, essv5550487, essv6378537, essv6078782, essv6444142, essv6066253, essv5815276, essv5660762, essv5578640, essv6056727, essv5463311, essv6093180, essv5585869, essv6087153, essv5434997, essv6288159, essv5602851, essv6431478, essv6247876, essv5960546, essv5934883, essv6071573, essv5917445, essv5895164, essv6188197, essv6046988, essv5512188, essv6339781, essv6206598, essv5665933, essv5962780, essv5603231, essv6501447, essv5783170, essv6028507, essv6270525, essv5577805, essv5964918, essv5545819, essv5641837, essv5783102, essv6108398, essv5884116, essv5585060, essv6546658, essv6001180, essv6295386, essv5949847, essv5668353, essv5572874, essv6200037, essv6545146, essv5965844, essv5577266
SamplesHG00626, HG00403, HG00650, HG00542, HG00442, HG00536, HG00608, HG00671, HG00524, HG00315, HG00367, HG00318, HG00181, HG00699, HG00179, HG00449, HG00654, HG00693, HG00337, HG00327, HG00271, HG00663, HG00589, HG00272, HG00501, HG00702, HG00689, HG00448, HG00330, HG00634, HG00346, HG00369, HG00334, HG00185, HG00537, HG00590, HG00512, HG00281, HG00277, HG00683, HG00335, HG00325, HG00534, HG00422, HG00705, HG00309, HG00427, HG00338, HG00326, HG00178, HG00323, HG00530, HG00419, HG00464, HG00543, HG00313, HG00560, HG00629, HG00268, HG00266, HG00176, HG00282, HG00596, HG00557, HG00328, HG00428, HG00653, HG00701, HG00657, HG00475, HG00368, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, HG00500, HG00275, HG00619, HG00708, HG00692, HG00635, HG00324, HG00284, HG00273, HG00651, HG00690, HG00373, HG00531, HG00479, HG00331, HG00684, HG00613, HG00525, HG00321, HG00276, HG00704, HG00463, HG00611, HG00476, HG00336, HG00285, HG00366, HG00353, HG00580, HG00375, HG00357, HG00278, HG00473, HG00607, HG00319, HG00418, HG00620, HG00339, HG00707, HG00672, HG00614, HG00513, HG00578, HG00421, HG00329, HG00656, HG00342, HG00310, HG00698, HG00280, HG00343, HG00372, HG00274, HG00595, HG00472, HG00628, HG00171, HG00345, HG00180, HG00437, HG00581
Known GenesRGS7
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675129
Frequency
Sample Size1151
Observed Gain0
Observed Loss139
Observed Complex0
Frequencyn/a


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