A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678225



Internal ID9597644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:2627385..2627532hg38UCSC Ensembl
chr4:2629112..2629259hg19UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38148
hg19148
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678225
Frequency
Sample Size1151
Observed Gain0
Observed Loss231
Observed Complex0
Frequencyn/a


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