A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2670197

Internal ID2903284
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13899389..13899884hg38UCSC Ensembl
chr12:14052323..14052818hg19UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6404498, essv6360679, essv5605114, essv6384007, essv5726330, essv6201511, essv5601408, essv5418896, essv5558693, essv5686625, essv6144461, essv5452175, essv5499776, essv5693327, essv6110398, essv5605334, essv5722377, essv6170364, essv5976460, essv5852340, essv5773135, essv5410732, essv5945799, essv5452270, essv5992910, essv5591758, essv6263832, essv6303407, essv6249010, essv5532050, essv6455617, essv6061185, essv5966399, essv5772159, essv6195196, essv5397500, essv5917238, essv5976261, essv6232658, essv6020904, essv5464401, essv6010470, essv6417075, essv6252812, essv6319792, essv5733446, essv6221359, essv5502039, essv6106246, essv6502911, essv6395157, essv5619346, essv5869999, essv5543614, essv6212125, essv5999694, essv6006123, essv5769256, essv5418007, essv6452606, essv5956582, essv5777773, essv6528288, essv6112396, essv5761382, essv6106953, essv5761831, essv5918394, essv5549852, essv5476711, essv6568733, essv5873884, essv6127864, essv6388567, essv6475924, essv6491427, essv6289082, essv5882085, essv6431900, essv5797958, essv5741062, essv6461898, essv5688975, essv5481814, essv5797601, essv5469722, essv6025536, essv6097703, essv6469482, essv5410530, essv6020947, essv6084686, essv6543904, essv6574820, essv5661556, essv6288495, essv6276304, essv6392102, essv6470167, essv5510219, essv6573540, essv6008290, essv5798452, essv6035237, essv6494779, essv5888370, essv5553254, essv6037161, essv6595822, essv5990006, essv5673373, essv5848981, essv6193910, essv5438294, essv6143281, essv6308499, essv6561127, essv5452244, essv6462467, essv6383154, essv5567393, essv6207067, essv5641110, essv5850044, essv6267032, essv5801418, essv5926451, essv6089649, essv5480484, essv5870607, essv6001833, essv5492006, essv6545047, essv6153004, essv5868220, essv5994937, essv5403011, essv6498568, essv5917711, essv5927912, essv6072348, essv6390058, essv6442094, essv6265309, essv5965667, essv5847439, essv6467907, essv5685132, essv6590634, essv6405470, essv5956447, essv5474995, essv5710544, essv6095315, essv5662847, essv6269973, essv5676742, essv6431439, essv6120287, essv5614141, essv6282342, essv6541141, essv5702907, essv5481828, essv6156742, essv6112470, essv5991866, essv6306319, essv6080672
SamplesHG01357, HG00380, NA11881, NA12827, NA12154, NA12718, NA12043, NA12489, HG01359, NA12249, HG00318, HG01440, NA07347, NA12750, NA20787, NA19712, HG00257, NA12748, NA20771, NA20522, NA20527, NA20278, HG01250, HG01052, HG00100, NA07056, HG01342, NA20516, HG00369, HG00731, HG00131, NA20796, NA20531, HG00160, NA11918, HG00310, NA06989, NA10847, NA20294, NA20802, NA11931, HG01082, NA20816, HG01174, HG00173, HG00326, HG00148, NA20786, HG00270, HG01350, HG00139, HG00190, HG00122, HG00106, NA12058, NA20539, NA20588, HG01188, HG00111, NA19685, NA07051, NA19648, HG00280, HG01134, NA19682, NA11893, HG00331, HG00319, HG00737, HG00253, HG01551, HG00188, HG00353, HG00247, HG00269, NA20770, HG00115, HG00321, HG00339, HG00158, NA20505, NA12763, NA12843, HG00346, HG00250, NA12383, NA11994, NA19660, HG00140, NA12155, NA20504, HG01048, HG01061, HG00231, HG01047, NA20754, HG01124, HG00141, HG00330, NA07048, NA12761, HG00149, NA11843, NA12829, NA12400, HG00264, HG00174, HG00637, HG00254, HG00276, HG00284, HG01187, NA12830, HG00237, HG00343, NA12751, HG00373, NA19725, HG00159, HG00267, HG01437, HG00124, NA07346, NA12046, HG00108, NA12716, HG01465, NA19771, HG00233, NA12892, NA20536, NA20512, HG00732, HG00239, NA19664, HG00265, HG00232, HG01069, NA20818, HG00116, NA20774, HG01080, HG00120, NA12891, NA12890, NA20581, NA19723, HG01334, NA12889, HG00118, NA19818, HG01390, NA12878, NA19452, NA20507, NA11830, NA12003, NA19770, NA12399, HG01251, NA11829, HG00275, HG01374, HG00473, HG01377, NA20502, HG01067, HG00327, HG01198
Known GenesGRIN2B
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2670197
Sample Size1151
Observed Gain0
Observed Loss169
Observed Complex0

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