A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2666583



Internal ID9932688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39374555..39529709hg38UCSC Ensembl
chr8:39232074..39387228hg19UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38155155
hg19155155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1282e199
Supporting Variantsessv5894167, essv6169529, essv5874357, essv5477462, essv5922357, essv5564050, essv6276669, essv6234040, essv6414692, essv6040700, essv5939363, essv6543241, essv5442031, essv5729383, essv6263458, essv6304801, essv6168116, essv6412803, essv6389501, essv5767848, essv5427794, essv6404823, essv6066442, essv5554726, essv5451981, essv6018694, essv6444111, essv5727646, essv5708920, essv5437306, essv6131797, essv5959447, essv5723225, essv5672578, essv6053350, essv5410413, essv5913932, essv6058179, essv5677316, essv5721251, essv6501111, essv5970219, essv5964915, essv6073456, essv6450969, essv5536835, essv5738789, essv5432980, essv5511734, essv5796997, essv5767804, essv5645529, essv6482786, essv5976018, essv5789589, essv5601415, essv5474622, essv5680408, essv5904848, essv6271457, essv5835200, essv5743250, essv5797614, essv6421885, essv6184927, essv5884129, essv6197832, essv5568298, essv6471000, essv5762247, essv6159753, essv6474199, essv6479389, essv5555138, essv6374853, essv6096549, essv5768219, essv6354482, essv5808501, essv5610963, essv5695136, essv5865940, essv6310243, essv6016738, essv6164384, essv6546892, essv5892221, essv6041676, essv5852621, essv5769560, essv5559527, essv5740679, essv6067254, essv5471845, essv5957408, essv5399434, essv6076205, essv6118369, essv5723201, essv5595400, essv6335448, essv6481285, essv6566153, essv6529180, essv6199847, essv5571353, essv6376512, essv5430997, essv5985162, essv5433100, essv6281973, essv5498040, essv5539235, essv6049940, essv5583229, essv5715230, essv6175782, essv5897575, essv6107401, essv5806514, essv6019450, essv5718558, essv6025989, essv6017888, essv5931839, essv6559328, essv6001420, essv5398314, essv6007459, essv6548950, essv5971548, essv6389467, essv5450105, essv5458625, essv5984000, essv5714711, essv5442168, essv6578264, essv6134071, essv6047773, essv5646586, essv5450406, essv5696542, essv6414359, essv5727434, essv6193142, essv5768115, essv5566131, essv6416360, essv5717259, essv5431170, essv6241779, essv6553317, essv6382045, essv5849183, essv5546552, essv6557409, essv6097363, essv5743374, essv5871379, essv6260494, essv6212346, essv5945317, essv5414945, essv6183397, essv6501347, essv5447723, essv5477818, essv6485794, essv5948701, essv6059379, essv5974231, essv6302670, essv5839196, essv6052891, essv6047481, essv5668671, essv5704832, essv5425890, essv6319038, essv6506395, essv5866606, essv5674583, essv6314058, essv6311367, essv5514214, essv6324681, essv5970850, essv6364618, essv6231177, essv5905953, essv6147279, essv6042810, essv6263235, essv5964542, essv5698173, essv5563670, essv6155823, essv5663131, essv5530611, essv6490676, essv6233593, essv6180824, essv6023643, essv6495766, essv6145527, essv6140922, essv5832704, essv5643207, essv5465878, essv6168207, essv6215174, essv5671677, essv6322347, essv6286229, essv6492520, essv5490071, essv5398773, essv5401376, essv6233342, essv6088558, essv5987979, essv5894054, essv6280562, essv5433950, essv6414403, essv6074358, essv6409651, essv6099907, essv6421185, essv5986015, essv5530127, essv6417472, essv6461859, essv6573678, essv6152604, essv6275827, essv6145541, essv6111225, essv5649841, essv5609576, essv6417346, essv5406394, essv6409078, essv6126718, essv5958446, essv6020930, essv5686197, essv5571817, essv5720491, essv6006607, essv5499075, essv5398513, essv5826724, essv6300658, essv5520659, essv6022638, essv6351414, essv6267640, essv6251619
SamplesNA12383, HG00189, NA20761, HG00442, HG00143, HG00608, HG00142, NA19664, NA10851, NA19399, NA12273, NA12414, NA12843, NA11920, HG00257, HG01066, NA12340, NA19684, NA18530, HG00737, HG01461, NA20771, NA12750, NA12399, HG01522, NA18627, HG00271, NA12813, NA07346, HG00138, HG00122, NA19678, NA18558, HG01492, NA07048, NA07347, HG01083, HG01365, HG00243, NA12275, HG01069, NA19720, HG01080, NA12156, HG01519, NA20812, HG00325, NA12044, NA11994, NA19722, HG00160, NA18985, HG00323, HG00253, NA19789, NA18539, HG00137, NA12777, HG00154, HG00282, HG01095, HG00657, NA19663, NA12718, NA18534, HG00740, HG01047, NA19654, HG00324, NA11919, HG00651, HG00690, HG00531, NA12829, NA11893, HG00684, NA19750, HG00140, HG01334, HG00146, NA19682, NA12144, NA12778, HG00246, HG00126, NA12546, HG01107, HG01075, NA12043, HG01148, HG00258, HG00254, HG00336, NA19747, NA12272, HG00734, HG01357, HG01174, HG01375, NA20792, NA19679, HG01137, NA19783, NA12763, HG00418, NA18610, HG01342, NA12347, NA06994, HG00513, HG00478, NA19785, NA19779, NA19716, HG00267, NA19474, HG00310, HG00112, NA19770, NA20826, HG00377, NA11892, HG01125, NA12006, NA18623, NA12154, HG01437, HG00581, HG01516, HG00114, NA11830, HG01521, HG01098, HG00536, NA11829, HG00361, HG01052, HG01188, NA11933, HG00306, NA12045, HG00640, HG00318, NA18486, HG01465, HG00699, NA12004, NA19777, NA18596, NA12058, NA20808, HG00177, NA18526, NA12400, NA12155, HG01140, NA12413, NA12341, HG00327, NA18967, NA19746, NA19381, HG01070, NA19762, NA19728, NA19448, HG00702, NA20586, NA19723, NA12891, NA12348, NA18942, HG00736, NA11992, HG01354, NA12287, HG00270, HG01134, NA12282, NA19651, HG01067, HG01170, NA19719, HG01072, HG01176, NA12889, HG01440, HG00182, NA19725, HG00637, HG00338, HG00159, NA12828, NA18638, HG00464, HG00108, HG00260, NA11831, NA10847, HG01353, HG00543, HG00313, HG00133, HG00188, HG00560, NA19657, HG01187, HG00328, HG00428, HG01515, HG00475, HG00320, HG00500, NA19788, HG00635, HG01073, HG00273, HG00373, HG01197, NA12249, NA12827, NA19756, NA18536, NA19675, HG01204, NA12716, NA18535, NA18952, NA12775, NA19749, NA18950, HG00375, HG00136, HG00638, HG00278, NA07051, NA12046, NA19786, HG01108, NA06986, HG00125, NA19759, NA19376, NA19078, HG00672, HG00111, HG00312, HG00329, HG00656, HG01055, HG00174, NA12830, HG00131, NA19726, NA19661, HG01377, NA19755, HG00345, HG00554, HG01191
Known GenesADAM3A, ADAM5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2666583
Frequency
Sample Size1151
Observed Gain0
Observed Loss260
Observed Complex0
Frequencyn/a


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