A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670197



Internal ID2903284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:13899389..13899884hg38UCSC Ensembl
chr12:14052323..14052818hg19UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg38496
hg19496
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
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670197
Frequency
Sample Size1151
Observed Gain0
Observed Loss169
Observed Complex0
Frequencyn/a


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