A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678008



Internal ID9597427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:108294668..108299445hg38UCSC Ensembl
chr13:108947016..108951793hg19UCSC Ensembl
Cytoband13q33.3
Allele length
AssemblyAllele length
hg384778
hg194778
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv379e199
Supporting Variantsessv5506583, essv5705651, essv5894056, essv5496577, essv6472146, essv6117712, essv6582286, essv6192535, essv6411174, essv6353201, essv6249535, essv6462566, essv5671030, essv5713457, essv5403297, essv5819096, essv5811966, essv6574304, essv6344822, essv5405147, essv6230104, essv5498126, essv5709895, essv5585093, essv6126662, essv5782846, essv6205398, essv5904563, essv5440324, essv5834242, essv6321771, essv6159210, essv6116477, essv5997335, essv5660687, essv6094456, essv5906403, essv6245505, essv6148549, essv5607820, essv5754730, essv5410014, essv6393004, essv5807196, essv6227813, essv5725335, essv5901891, essv5490806, essv5441986, essv6376604, essv6368067, essv5583415, essv5470877, essv6133966, essv5999482, essv5727710, essv5620578, essv5739329, essv6151231, essv6563010, essv6552798, essv5413425, essv5453800, essv5721407, essv6381142, essv5436937, essv5753458, essv5813211, essv5818517, essv6033419, essv6347447, essv6375407, essv5981341, essv5828253, essv6448176, essv5696791, essv6423606, essv6037001, essv5578822, essv5804254, essv5867132, essv6463935, essv6359471, essv6043321, essv5608180, essv6574874, essv5752112, essv5944592, essv6570535, essv6410061, essv6285416, essv6053955, essv6316392, essv5594610, essv6357970, essv5636101, essv6209696, essv5802516, essv6381015, essv5517849, essv6404064, essv5999751, essv6380883, essv5498581, essv5794324, essv6381432, essv5656197, essv6311371, essv5406509, essv5790905, essv5799420, essv6335115, essv6561879, essv6378620, essv5826399, essv5601735, essv5437286, essv6102527, essv5517671, essv6051611, essv6545448, essv6560397, essv5643540, essv6495454, essv5679382, essv5648914, essv5723113, essv6014064, essv5521488, essv6031663, essv5667193, essv6139266, essv6382573, essv5898851, essv6177384, essv6312518, essv5888915, essv5807900, essv5559886, essv6451467, essv6339135, essv6444381, essv6348745, essv6505320, essv6061645, essv6468071, essv5897358, essv6067968, essv5993460, essv5609469, essv6115638, essv5769180, essv6259850, essv6090478, essv5948371, essv6153781, essv6027666, essv5670533, essv6561523, essv5525113, essv6260196, essv5928551, essv5858563, essv5910053, essv5765803, essv6471682, essv6449713, essv5745458, essv5510308, essv5758215, essv5767526, essv6479319, essv5431449, essv5505000
SamplesHG00096, NA20588, NA20529, HG01356, HG00143, HG00142, NA20508, NA19664, NA11995, HG00242, NA18508, NA19332, NA11920, NA18599, NA12045, HG00367, HG00318, NA19092, HG00153, NA20294, NA19819, NA18504, NA12340, HG01456, HG01461, NA20806, HG01140, HG00271, HG00127, NA19660, NA19379, NA18550, NA18519, HG00251, NA18489, HG01177, NA18923, NA11992, NA19197, NA18582, HG01354, HG00369, HG01365, HG00185, NA20336, NA19904, NA19384, HG01110, HG00158, HG00139, NA20539, NA19651, HG00120, HG00106, HG00156, NA19917, NA19719, NA11994, NA19235, HG00309, HG00338, NA19239, NA20342, HG00178, NA20757, NA18908, NA19451, HG00264, NA11993, HG00108, HG00133, HG01136, HG00154, NA19908, NA20800, HG00282, NA18934, HG00557, HG00245, NA19462, HG00190, NA20760, NA20536, NA19327, NA19455, NA20314, NA19982, HG00320, NA18637, NA12718, NA18871, NA18534, NA20770, HG01047, HG00273, NA19114, HG00651, NA19774, HG00250, HG00531, NA20538, NA12249, NA19453, NA06989, NA18553, NA19338, HG00146, NA19452, HG00141, NA19469, NA19395, HG00126, NA19436, NA19401, NA19375, NA20799, HG00124, HG00155, NA19440, NA12716, HG00254, NA19390, NA19108, NA19147, NA18517, NA12775, NA19749, NA20815, HG00357, NA19732, HG00136, NA19435, NA20530, NA19835, NA20792, NA19439, NA19467, HG01108, NA07037, HG00256, NA19783, NA06986, HG00269, HG00125, NA20341, NA19818, NA19376, HG00707, HG00111, NA19248, HG01491, NA20582, NA19779, NA19716, HG00174, HG00123, NA20289, HG00186, NA18873, NA19213, HG00372, HG00252, NA20503, NA20502, NA19430, NA07056, NA11892, HG01378, NA19755, NA19316, NA20585, NA19065, NA18549, NA12776
Known GenesTNFSF13B
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678008
Frequency
Sample Size1151
Observed Gain0
Observed Loss174
Observed Complex0
Frequencyn/a


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