A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2660625



Internal ID9580044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79409001..79409166hg38UCSC Ensembl
Outerchr18:79408953..79409218hg38UCSC Ensembl
Innerchr18:77169001..77169166hg19UCSC Ensembl
Outerchr18:77168953..77169218hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38266
hg19266
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5566281, essv5725833, essv5408035, essv6422896, essv6377012, essv6111581, essv5688681, essv5433412, essv6110085, essv5882503, essv6065085, essv6161470, essv6494335, essv6489936, essv6260097, essv5622865, essv5567585, essv6526585, essv5606742, essv6524073, essv5732452, essv6334782, essv6171877, essv5899201, essv6268498, essv5414675, essv5845488, essv5429034, essv6246089, essv5604597, essv6135958, essv5552417, essv6358007, essv6451989, essv6248864, essv5568091, essv5926868, essv5843804, essv5498907, essv5960616, essv5865878, essv5840502, essv5816242, essv6380534, essv6417089, essv6485235, essv6070354, essv6366527, essv6135791, essv6500716, essv6235675, essv6215586, essv5477629, essv6131526, essv5637206, essv5433676, essv6053109, essv6148575, essv5887848, essv5997324, essv5611981, essv5925967, essv5476369, essv5538875, essv5557082, essv5994778, essv5617162, essv6539593, essv6392781, essv5516869, essv5730691, essv5459692, essv5413455, essv6486516, essv5513882, essv5494676, essv6124718, essv6385537, essv6361642, essv6008280, essv5953382, essv5448276, essv6458023, essv5630806, essv6132209, essv6071429, essv6238125, essv6336873, essv5578630, essv6353561, essv5418063, essv6037155, essv5661775, essv6180406, essv6427922, essv6004582, essv6161681, essv6091641, essv5466952, essv6121553, essv6051481, essv6354540, essv5540731, essv6340660, essv6218750, essv5462507, essv5461431, essv6154920, essv5728720, essv6447859, essv6433526, essv5403752, essv6108911, essv5769137, essv5403139, essv6188958, essv6510620, essv6200834, essv6149148, essv5518887, essv6309457, essv5463468, essv5450086, essv6250794, essv6158834, essv6411935, essv6101028, essv6572843, essv5544312, essv6259198, essv5464679, essv6539165, essv6204362, essv5855822, essv5640240, essv6506876, essv6124353, essv5828361, essv5917165, essv6059518, essv6403761, essv5700530, essv6538629, essv6378918, essv5511289, essv5540852, essv5662932, essv6244683, essv6545415, essv5935718, essv5777952, essv5946641, essv5758548, essv5677099, essv6463528, essv6283797, essv6319472, essv6431903, essv6499510, essv5786201, essv5455198, essv6542892, essv6316497, essv5756863, essv5844935, essv6216430, essv5460468, essv5821411, essv5685323, essv5739569, essv6544440, essv6024913, essv5516260, essv6283166, essv5442648, essv5826656, essv6165529, essv5566022, essv6285080, essv5937046, essv5843962, essv5882766, essv5920670, essv5560644, essv5771517, essv5701325, essv5453055, essv6510973, essv5557767, essv6449338, essv6430470, essv6332962, essv5977774, essv5957908, essv5434641, essv6493693, essv6112450, essv5462284, essv5452218, essv6299369, essv5830270, essv5714651, essv5479037, essv6108014, essv5815098, essv5414430, essv6198323, essv6454360, essv5912773, essv5789724, essv5946429, essv6315856, essv6137609, essv6583556, essv6405908, essv6528707, essv6070329, essv6171794, essv5987144
SamplesHG01060, HG00114, HG01441, HG00650, HG00542, HG00442, HG01356, HG00143, HG00536, HG01462, HG00608, NA18621, HG00249, HG00671, HG00524, HG01052, NA18599, HG00257, HG01389, HG01374, HG01066, HG00315, NA18603, HG00699, NA19819, NA18596, NA18530, NA18606, HG00449, HG00654, HG01051, NA18602, HG00693, HG00337, HG00327, HG00271, HG00663, HG00138, HG01350, NA20796, HG01366, HG01070, HG00589, HG00251, HG00501, NA18595, HG01488, HG00702, HG00689, HG00448, NA18635, NA11918, NA18582, HG01354, NA20768, NA18571, HG01083, HG00334, NA18964, HG00537, HG00590, HG00158, NA20541, NA18611, HG00512, HG00281, HG00139, HG00277, HG01069, HG01067, HG00683, HG00335, HG00148, HG00236, NA18977, HG00325, HG01072, HG00534, HG00422, HG00705, HG01440, HG00309, HG00427, NA18990, HG00338, HG00159, NA18557, HG01048, HG00326, HG00323, HG00419, HG00253, NA18638, HG00464, HG00108, HG00543, HG00313, HG00137, HG00154, NA18544, NA18613, HG00443, HG00268, NA19082, HG01171, HG00282, HG01384, HG00557, HG00328, HG00653, HG00701, HG00657, HG00475, NA19663, HG00436, HG00556, HG00320, HG00584, HG00533, HG00583, HG00344, NA18637, HG00500, HG00263, HG00275, NA18534, HG00619, HG00708, HG00692, NA18548, HG00740, NA18537, HG01390, HG01047, NA18566, HG01102, HG00324, HG00284, HG01073, NA18573, HG00273, HG00651, HG00250, HG00690, HG00531, HG00479, NA20581, NA12829, HG00331, HG00684, HG01383, HG01101, HG00613, HG00525, HG00321, HG00276, NA19452, HG00704, HG00463, HG01204, NA18546, NA18632, HG00476, HG00285, NA18543, NA18559, HG00353, HG00580, HG00136, HG01357, HG01174, HG01375, HG00607, HG00237, HG00319, HG01108, NA07037, HG00256, HG00662, HG00418, NA18610, HG00620, HG00339, HG00125, NA19818, HG00707, HG00614, HG00513, HG00259, HG00421, HG00656, HG00342, HG01055, NA18636, HG00310, HG00186, HG00698, HG00280, HG00131, NA11843, HG00343, HG00372, HG00274, HG00252, HG00472, HG01082, HG00345, NA18623, NA18612, NA18549, NA18622, HG01437, HG01061, HG00437, NA18562, HG00581, NA18577, NA18620, HG00593
Known GenesNFATC1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2660625
Frequency
Sample Size1151
Observed Gain0
Observed Loss219
Observed Complex0
Frequencyn/a


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