A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664735



Internal ID9930840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:33054078..33055041hg38UCSC Ensembl
Outerchr7:33054039..33055098hg38UCSC Ensembl
Innerchr7:33093690..33094653hg19UCSC Ensembl
Outerchr7:33093651..33094710hg19UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg381060
hg191060
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6327818, essv5427129, essv5407737, essv6585031, essv5979912, essv5673420, essv6096520, essv5518612, essv6590022, essv5414637, essv6097190, essv5926470, essv6209159, essv6160293, essv5799130, essv5780792, essv5931800, essv5876881, essv5827079, essv6513241, essv6011333, essv6596293, essv6260782, essv6385912, essv6045246, essv5801660, essv5708212, essv5610827, essv6551692, essv6150003, essv5488181, essv5418697, essv6448078, essv6446415, essv6209639, essv6553103, essv5828570, essv5468912, essv5986857, essv6023695, essv5782874, essv5618829, essv5750770, essv5524404, essv6134093, essv5649781, essv6535064, essv6278391, essv6051553, essv5890065, essv5840477, essv6374460, essv6272853, essv5438264, essv6000198, essv5822714, essv5483144, essv6345635, essv6214120, essv5854663, essv5513559, essv6130038, essv6107028, essv5691355, essv5470175, essv6320385, essv5850183, essv5425586, essv5578163, essv6080158, essv5792560, essv5817053, essv6551625, essv6396292, essv6234470, essv5713874, essv6368871, essv6489478, essv5423043, essv5615068, essv5586739, essv6017368, essv6338873, essv6499183, essv5598010, essv6509014, essv6428805, essv6243407, essv5712745, essv5566074, essv6268217, essv5803414, essv5792126, essv6560575, essv5473552, essv6570982, essv5428609, essv6038731, essv6504161, essv5585256, essv5672781, essv5518009, essv6329552, essv6133099, essv5697522, essv6306214, essv5513509, essv6006828, essv6436986, essv6526323, essv6423675, essv5836298, essv6432463, essv6165098, essv5929205, essv6016547, essv6280497, essv6216110, essv6180171, essv5986528, essv6306780, essv6235917, essv5876625, essv6416059, essv5918140, essv6207719, essv6133111, essv5494458, essv6516030, essv5809182, essv5884287, essv5415172, essv5411341, essv6301775, essv6089687, essv5616853, essv5948539, essv6089558, essv5967894, essv6572402, essv6417790, essv6346558, essv5974228, essv5755030, essv5499936, essv6188078, essv6160764, essv5497410, essv5792740, essv6308338, essv5913859, essv6235291, essv5682814, essv5642751, essv6139199, essv6547736, essv6573294, essv6326013, essv5604653, essv5494172, essv5545595, essv5519858, essv5995105, essv6177904, essv5646663, essv5544489, essv6539314, essv6381967, essv6575498, essv5453351, essv5965259, essv6551620, essv6131542, essv5464249, essv5618954, essv5970580, essv5855509, essv6496525, essv5878304, essv6121246, essv5883156, essv5563964, essv6086433, essv5832344, essv6049868, essv6336898, essv6530864, essv6171476, essv5658495, essv6440685, essv6024698, essv6101851, essv6026776, essv5724596, essv6248652, essv6100963, essv6149117, essv6098649
SamplesHG00403, HG01060, NA19701, HG00442, HG01521, HG01098, NA12842, HG00231, HG00608, NA20766, NA12286, HG00671, HG00361, HG01359, HG00559, NA19399, NA12273, HG00187, NA19332, NA18999, NA18917, NA19092, NA12751, NA20294, NA19393, NA12340, NA12058, HG00737, NA19443, HG01051, NA20356, NA19920, NA20771, NA12399, NA12155, NA19067, HG01140, NA18988, NA19446, NA19068, HG01250, NA19381, NA20796, HG00272, NA19382, NA20589, NA19762, HG01177, HG01488, NA18960, HG00736, NA19197, NA18582, NA19313, HG00369, HG00334, NA20336, NA19904, HG00311, HG00243, NA19130, HG01134, HG00277, NA19651, HG00120, HG00148, NA20775, NA06984, HG01495, NA19917, NA19371, NA18617, NA19385, NA19471, HG00182, NA19002, HG00338, HG01048, NA20127, NA18908, NA19985, HG01550, NA20753, HG01124, NA19007, HG01353, HG00543, HG00133, NA12777, HG00188, HG00560, NA19437, NA18538, NA19082, HG00380, NA19707, NA19056, NA18934, NA12342, NA19462, NA19347, NA20809, HG01515, NA20810, NA20536, NA19327, NA18991, NA19717, NA18516, NA19982, HG01498, NA19788, NA18871, NA19776, HG00740, HG01390, HG01047, HG01094, HG00651, NA20299, NA19084, NA12829, HG00684, HG01383, HG01101, HG00140, NA18853, NA19009, HG00152, HG00704, HG00463, HG00141, NA19469, NA12778, NA20534, NA18541, NA19012, NA19436, NA20296, NA19685, NA18953, NA19375, NA19003, HG00124, NA20801, HG01190, HG00265, NA19256, HG00580, NA18941, NA19010, NA20527, HG00308, NA19835, HG01494, NA19428, HG01113, HG00116, NA19083, HG01108, NA19783, NA12763, HG01489, NA12347, NA06986, NA19759, NA19078, HG00513, HG01491, HG00312, NA19779, NA18987, HG00342, NA19716, HG00267, NA19713, HG01055, HG00174, HG00186, NA18873, HG00280, NA19726, NA19711, NA19213, NA19900, NA18983, NA20503, NA19661, NA19430, NA19755, NA19004, NA18488, HG01082, NA12154, NA19065, NA19346, HG00581, NA19676
Known GenesNT5C3A
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664735
Frequency
Sample Size1151
Observed Gain0
Observed Loss198
Observed Complex0
Frequencyn/a


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