A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2676042

Internal ID4720376
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44086723..44086961hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
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
Pubmed ID23128226
Accession Number(s)esv2676042
Sample Size1151
Observed Gain0
Observed Loss166
Observed Complex0

Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer