A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676042

Internal ID9595461
Location Information
TypeCoordinatesAssemblyOther Links
chr17:46009357..46009595hg38UCSC Ensembl
chr17:44086723..44086961hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6182211, essv5812190, essv5633081, essv6231049, essv5581922, essv5540923, essv6488956, essv5475284, essv6041137, essv5805973, essv6060885, essv5617417, essv5575979, essv6279602, essv6554569, essv6259674, essv5689397, essv6183197, essv5465838, essv6533303, essv5695240, essv6000775, essv6546432, essv5562312, essv5740301, essv6340649, essv5719391, essv5530087, essv5520005, essv5573824, essv6203466, essv6393310, essv6512102, essv5680604, essv6129041, essv6440515, essv5853077, essv6326029, essv6326682, essv6175262, essv6271852, essv6387527, essv6586252, essv5698964, essv5818283, essv5497551, essv5581364, essv5574204, essv6120880, essv5672734, essv5635384, essv5587138, essv6487267, essv6497270, essv5660956, essv6037643, essv5939595, essv6479271, essv6047236, essv5422779, essv6026062, essv5817067, essv5741448, essv6265508, essv6260963, essv5849239, essv5828737, essv6362095, essv5931771, essv5895668, essv6332410, essv5480215, essv5476120, essv6089445, essv5573704, essv5493347, essv5939557, essv5553596, essv6003790, essv5407417, essv6019914, essv6251405, essv6217377, essv5568857, essv5553340, essv5734972, essv6391974, essv6504368, essv5541646, essv5807374, essv6055421, essv5784825, essv5492277, essv6451612, essv6527719, essv5631841, essv6568650, essv6544669, essv5670321, essv6143005, essv5564328, essv5791927, essv5929204, essv5698163, essv5822015, essv5947916, essv5798331, essv5774310, essv6491084, essv5720927, essv6006988, essv5482031, essv5734070, essv5489535, essv5968213, essv5409922, essv5828018, essv5401208, essv6064317, essv5653761, essv6477762, essv6320965, essv5867580, essv5809485, essv5706922, essv5846834, essv5441476, essv6518672, essv6464742, essv5855757, essv6168958, essv5815036, essv5397933, essv5720423, essv5501361, essv6387577, essv5620506, essv6462422, essv6435439, essv5755626, essv6028394, essv5927526, essv5876361, essv6202050, essv5839800, essv6298824, essv6359646, essv5867398, essv6345490, essv6594142, essv6216808, essv6248730, essv6017229, essv5867858, essv5884023, essv5579717, essv5765157, essv6132922, essv6476620, essv6487903, essv5518294, essv5860023, essv6139192, essv5530355, essv6418295, essv6191282
SamplesNA20281, HG00157, NA12489, HG00152, HG00252, NA07347, NA12748, NA20522, NA20527, NA20503, HG00344, HG01353, HG01072, HG01052, HG01519, NA12286, NA19819, NA20506, HG00127, HG00328, HG00145, NA11920, HG00186, NA12347, NA20535, HG00155, HG00160, HG00310, NA06989, NA10847, NA12340, NA20802, HG01389, NA20759, HG01197, HG01051, HG01492, HG01082, NA20816, NA12828, NA18517, HG00326, HG01491, NA19782, HG00739, NA19210, HG00106, HG01167, NA20539, HG01188, HG01204, NA07051, NA19678, HG00280, NA19780, NA12287, NA20521, HG01171, NA18949, HG01133, HG00256, NA20770, NA12414, NA20532, HG01107, HG00321, HG01550, NA19726, HG00158, NA20505, NA12763, NA19982, NA19085, NA20533, HG01384, HG01140, NA20515, NA12383, HG01378, NA20811, NA19675, HG00140, NA12155, NA18563, HG00096, NA20530, HG01495, NA20807, NA18856, HG00141, NA12273, HG00315, NA12761, NA11933, NA20765, HG00125, HG01360, NA11831, HG01113, NA20520, NA11995, HG00174, HG00254, HG00237, NA12144, HG00133, NA20773, NA12006, HG00159, NA19786, HG00124, NA19785, NA20760, NA12348, NA19716, NA20790, NA20795, NA20826, NA06986, HG00260, NA19713, NA20814, HG00277, NA20774, NA20828, HG00740, NA20797, NA19720, HG00329, NA19707, HG00246, HG01060, HG01149, NA19777, NA20581, HG01334, NA20799, HG00138, NA12889, NA19818, NA20509, HG01390, NA20513, NA11992, NA20810, NA19749, NA19717, NA20758, HG01251, HG00367, NA12045, NA11932, NA11829, HG00251, NA20768, HG00275, NA20528, HG01374, HG00137, HG01102, HG01489, NA20806, HG01377, NA20517, HG00345, HG00136
Known GenesMAPT
AnalysisNo reference, merging analysis
Pubmed ID23128226
Accession Number(s)esv2676042
Sample Size1151
Observed Gain0
Observed Loss166
Observed Complex0

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