A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2678225

Internal ID9597644
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2627385..2627532hg38UCSC Ensembl
chr4:2629112..2629259hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6279272, essv6277356, essv5819530, essv6281490, essv6341246, essv6046857, essv5729259, essv6133648, essv6154980, essv5706308, essv6502570, essv6012964, essv5911028, essv6494466, essv5786046, essv5978327, essv5572025, essv6311907, essv5523358, essv5446704, essv6079335, essv5732014, essv5575082, essv5481845, essv5553201, essv5998289, essv6418836, essv5428640, essv6351485, essv5467564, essv5657183, essv5921647, essv6052334, essv5794835, essv5416453, essv6139865, essv6417251, essv6568968, essv5893943, essv5987685, essv6231365, essv5607125, essv6543267, essv5972596, essv5399422, essv6082967, essv6524219, essv6218761, essv5527002, essv5521985, essv5420227, essv5833246, essv6488050, essv6238848, essv6343551, essv6460029, essv6544640, essv5913398, essv5588462, essv5986630, essv5438047, essv6177387, essv6317899, essv5801186, essv5619671, essv5970318, essv5900094, essv5563093, essv5959554, essv6056663, essv6189359, essv6404697, essv5431293, essv5719854, essv5726747, essv5685277, essv5525726, essv6022074, essv5696337, essv5859325, essv6513191, essv5616714, essv6213537, essv5446078, essv5490511, essv5971162, essv5791537, essv5525141, essv6493586, essv6300997, essv6140741, essv6273721, essv5696068, essv5523367, essv5906755, essv6040050, essv5510476, essv6088078, essv5574079, essv6258858, essv6192683, essv5583549, essv6130302, essv5726487, essv5857300, essv5765018, essv5528992, essv5820299, essv6002487, essv5594785, essv6104956, essv6547647, essv5538597, essv5681509, essv5928600, essv5589264, essv6553307, essv6378823, essv5706333, essv6246560, essv6338123, essv5712799, essv5409974, essv6314671, essv5420615, essv5891513, essv6196574, essv6049743, essv6066917, essv5875646, essv5689785, essv5840155, essv6253178, essv5938260, essv5442085, essv5616608, essv6419921, essv6090440, essv5585704, essv6558736, essv5745780, essv6173796, essv5419253, essv6229755, essv6481871, essv5408983, essv5741954, essv6470591, essv6552758, essv6060477, essv6464244, essv6129388, essv6244559, essv6400290, essv6563011, essv6446051, essv5598887, essv6536299, essv5406637, essv5693535, essv5524202, essv5694438, essv6354955, essv5918584, essv5567052, essv5881949, essv6078501, essv6058805, essv6009986, essv5436303, essv5860534, essv6318145, essv5727845, essv6112915, essv6393647, essv6286486, essv5504013, essv6528562, essv6135335, essv6364934, essv6531682, essv5672952, essv6093237, essv5457489, essv6533824, essv6209871, essv5618891, essv6011620, essv6540422, essv6418665, essv5926849, essv5796064, essv5991286, essv5954217, essv6112026, essv6169691, essv5978040, essv5433029, essv6084141, essv5610660, essv5759399, essv5897868, essv5729033, essv6561438, essv5587342, essv6094281, essv6060360, essv5607768, essv6253227, essv6181744, essv6112123, essv5957456, essv6577816, essv5741366, essv6286585, essv6460288, essv6149909, essv6021323, essv6145530, essv5411897, essv6091745, essv6076623, essv6061250, essv5851006, essv6079090, essv6060045, essv6153660, essv5518895, essv5469924, essv6547393, essv6276485
SamplesHG00323, HG00613, NA12827, HG00157, NA12489, HG00537, NA18605, HG00536, NA18595, NA07037, NA20527, NA18534, HG00344, NA18530, HG00418, NA12342, NA19404, HG01055, HG00705, HG00437, HG01083, NA18612, HG00112, HG00274, HG00464, NA12347, HG00131, HG00565, HG00736, NA18550, NA19072, HG00707, NA19670, HG00657, HG01365, HG00117, NA19788, HG01492, NA20800, NA20816, HG01488, HG00428, NA19010, HG01174, NA18573, NA19782, HG01350, HG00139, NA18541, NA18546, NA12058, HG00683, HG00698, HG01188, HG00581, NA18963, NA19685, NA19651, HG00280, HG00557, HG00331, NA20798, HG00253, NA19780, NA18557, NA20755, NA18950, NA19776, HG00479, NA18949, NA19654, NA20586, HG01133, HG00256, NA20770, HG00266, HG00115, HG00543, HG01107, NA18559, HG00339, NA19463, NA20761, HG00158, HG00556, NA20505, NA20533, HG00346, NA18624, HG00250, HG01140, HG00472, HG00421, HG00583, NA18566, NA19068, NA20811, HG00140, NA18576, NA18960, NA18623, NA20757, HG01048, HG00692, HG01183, HG00689, NA18636, NA19083, HG00330, HG00338, NA18959, HG00533, HG00125, HG01136, NA18637, NA11995, HG00174, NA19658, NA19681, HG00243, HG00254, HG00276, HG00284, NA12777, HG00237, NA19082, HG00584, NA12751, NA19000, NA19676, HG00436, NA19360, HG01437, HG00124, HG01465, NA19771, HG00653, NA18572, HG01066, NA20512, HG00325, HG00629, NA12348, NA20826, NA18986, HG00559, NA20753, NA19005, NA19657, NA20540, HG01073, NA18558, HG01170, HG00232, HG01069, HG00478, NA18564, NA18961, HG00116, HG00277, HG01351, NA20797, HG00513, HG00524, NA20582, NA18988, HG00153, HG00329, HG00512, HG01070, NA20766, HG00246, NA12283, NA18562, NA20813, HG00589, NA18606, NA19777, HG00120, HG00151, NA18619, NA12890, NA18582, HG00427, HG01137, NA18597, NA20537, HG00590, NA12272, HG01095, NA18983, HG00443, NA06984, HG00138, HG00663, NA19719, NA18602, NA18577, HG01390, HG00530, NA11830, NA11992, NA18944, NA19717, NA20812, NA19655, NA18571, HG00422, NA12045, NA18611, NA19130, HG00119, HG00275, HG00625, NA20528, HG00473, HG01462, HG01489, NA20804, HG00626, HG00684, HG00336, HG00671, NA20517, HG00278, NA19661, NA19779, HG00136, NA07000, HG01067, NA18553
Known GenesFAM193A
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2678225
Sample Size1151
Observed Gain0
Observed Loss231
Observed Complex0

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