A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676042



Internal ID4720376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:44086723..44086961hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg19n/a
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
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676042
Frequency
Sample Size1151
Observed Gain0
Observed Loss166
Observed Complex0
Frequencyn/a


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