A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657643



Internal ID9923748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:97433139..97438062hg38UCSC Ensembl
chr4:98354290..98359213hg19UCSC Ensembl
Cytoband4q22.3
Allele length
AssemblyAllele length
hg384924
hg194924
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5986438, essv5484016, essv6367595, essv6470265, essv6310572, essv5942572, essv5844600, essv5721530, essv5628970, essv5589798, essv5584785, essv6362822, essv6385182, essv5950653, essv6070072, essv5909913, essv6452968, essv5438781, essv6032557, essv5522377, essv5574472, essv6137109, essv5885111, essv6532451, essv6530499, essv6433386, essv5962646, essv6402830, essv6160106, essv5471891, essv5671151, essv6166039, essv6127194, essv6201438, essv6124111, essv5730772, essv5577220, essv6018599, essv6410632, essv5560792, essv6290814, essv6490763, essv6160608, essv5933230, essv5680985, essv6145610, essv6011352, essv6439160, essv5729567, essv5499733, essv5646533, essv6416004, essv6187852, essv5512704, essv6308421, essv5686218, essv6571824, essv5502601, essv5943565, essv5821812, essv5518001, essv6534322, essv6510800, essv6342523, essv5936221, essv6167452, essv6157650, essv6242359, essv6463383, essv5628618, essv6224546, essv6127917, essv5519949, essv5438431, essv5754113, essv6049264, essv5627160, essv6593340, essv5505653, essv6273747, essv6163631, essv5723650, essv5414066, essv5990122, essv5726455, essv6257088, essv5823461, essv5759866, essv5978601, essv5764896, essv6098587, essv6465041, essv6009798, essv5939416, essv5403057, essv5731959, essv6341047, essv6337159, essv6473333, essv6139570, essv6357610, essv5782595, essv5970300, essv5792333, essv5416905, essv6502340, essv6354190, essv6329873, essv6177918, essv5952720, essv6493564, essv6363514, essv6496068, essv5807162, essv6058905, essv5795967, essv5726500, essv5801201, essv5664582, essv5499916, essv6542517, essv6259005, essv6048186, essv5580227, essv6286368, essv5467629, essv5750941, essv5978644, essv5737164, essv5963911, essv6588136, essv5601950, essv6322298, essv6119278, essv5620518, essv6469805, essv6479551, essv6267249, essv5725953, essv5543775, essv6361573, essv5688432, essv5716013, essv6189926, essv5923386, essv6573224, essv6487174, essv6540073, essv5626603, essv5616899, essv6596225, essv6468355, essv5585797, essv6189276, essv5559396, essv6120566, essv6586207, essv5976327, essv6406347, essv6054201, essv5648875, essv6257543, essv5914946
SamplesHG00096, NA20588, HG01060, NA20761, HG00542, NA19648, NA11830, NA19700, NA20543, NA19055, HG00536, NA20766, NA12286, HG00671, NA10851, HG01052, HG00187, NA18565, NA11920, HG00257, NA20813, NA20752, NA20532, NA18603, HG00566, NA19684, NA12058, NA18959, HG00179, NA18633, HG00261, NA20771, NA12341, HG00327, HG00663, NA20814, NA20537, NA18940, HG00122, NA20798, HG01177, HG00702, HG00689, NA18567, NA18619, NA18547, NA12348, NA19062, NA12283, NA19088, NA12287, HG00247, HG00158, NA18611, HG00120, HG01170, HG00236, HG00156, HG00232, NA18560, HG00534, NA18617, NA18986, HG00427, HG00160, HG00338, HG01048, NA18985, NA12828, NA19445, NA19985, HG00253, NA20755, HG00264, NA11831, HG00543, NA18605, NA12489, NA18538, HG00176, HG01171, NA20787, HG00596, HG00245, NA12342, NA19077, NA12003, HG00653, HG00556, HG00533, HG00263, NA18910, NA18948, HG00619, NA19064, NA18548, HG00740, HG01102, NA11919, NA19084, HG00690, HG00531, HG00331, NA18499, NA19453, HG00117, HG00525, HG00157, HG00140, NA18553, NA12827, HG00704, NA12144, NA20828, NA12778, NA19675, NA20765, HG01148, HG00258, NA20799, NA20773, NA18542, HG00155, HG00254, NA11881, HG00265, NA18543, NA18559, NA18564, NA19072, NA07051, NA20778, NA19679, NA19470, NA20797, HG00256, NA12763, HG00418, HG00339, HG00707, HG00614, HG00578, NA18631, HG00421, NA12749, HG00656, HG00123, NA20786, NA18873, HG00131, NA19080, NA20528, HG00252, NA20502, NA07056, NA18505, NA12006, NA18623, NA12154, NA18612, HG01061, NA18562, NA12776
Known GenesSTPG2-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657643
Frequency
Sample Size1151
Observed Gain0
Observed Loss163
Observed Complex0
Frequencyn/a


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