A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658186



Internal ID9577605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27558467..27558598hg38UCSC Ensembl
chr12:27711400..27711531hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38132
hg19132
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6202968, essv6400295, essv6491529, essv6186934, essv5684718, essv6361971, essv5632557, essv6000071, essv6380436, essv6562858, essv5420933, essv5958253, essv5742654, essv6529874, essv6244087, essv5523282, essv5521111, essv6500058, essv6458357, essv6573748, essv5469279, essv6403539, essv5764977, essv6209107, essv6266617, essv6034144, essv6276372, essv5437409, essv6525406, essv5611115, essv6092285, essv6322332, essv5936048, essv6142905, essv5673249, essv5967730, essv6021279, essv5658513, essv5449559, essv5402977, essv6184926, essv5863567, essv5445971, essv5956673, essv5600365, essv5888364, essv6431775, essv5552856, essv6207509, essv6289993, essv5500401, essv5559136, essv5723591, essv5882668, essv5593868, essv5605837, essv6357851, essv5610040, essv5669482, essv6077501, essv6318693, essv6345074, essv5986344, essv5932894, essv5727100, essv6319083, essv6403064, essv6491500, essv5826651, essv6442589, essv5939153, essv6230835, essv5746386, essv6501850, essv6203687, essv5747342, essv5969252, essv6270259, essv5785681, essv6096716, essv6455269, essv6008231, essv6152267, essv6022496, essv6479584, essv6439508, essv6114395, essv6216818, essv5697744, essv6405512, essv6300094, essv6106528, essv5813600, essv6131725, essv6587134, essv6099783, essv6292797, essv5566098, essv5796087, essv5894098, essv6165867, essv5598866, essv6133939, essv6472727, essv5467685, essv5590904, essv6218611, essv5968582, essv6227614, essv5877617, essv6460439, essv6356324, essv6177538, essv6010602, essv6212007, essv6152822, essv6508206, essv5627148, essv6190023, essv6292294, essv5718781, essv5759600, essv6101282, essv6054718, essv6022608, essv6296742, essv5763601, essv5907706, essv6334072, essv6047446, essv5873551, essv6062138, essv5407157, essv6057300, essv6175857, essv6151373, essv5535071, essv6172319, essv5417780, essv5418848, essv5409763, essv5419115, essv6018256, essv5519575, essv5737501, essv6264487, essv5908468, essv5988294, essv5473372, essv6085742, essv6041029, essv5509653
SamplesHG00323, HG00613, HG01441, NA18964, NA12154, HG00313, HG00252, HG00318, NA18605, HG00607, HG01440, HG00619, NA18534, HG01353, NA18871, HG00418, HG01052, NA18561, NA19404, NA19114, HG00705, HG00437, NA18612, HG00464, HG00596, NA20535, HG00449, NA19003, HG00707, NA18603, HG01389, HG00463, HG00657, HG01365, NA19788, HG01082, HG00375, HG01174, NA18608, HG01350, HG00739, NA18546, HG00701, HG00683, HG00698, HG00280, HG00335, HG01101, NA19682, HG00319, HG00253, HG00699, NA18557, NA19147, NA19776, HG00479, NA18628, NA19654, HG01133, HG00256, NA18632, HG00543, HG01107, HG00321, HG00346, HG00250, HG00472, HG00421, HG00583, NA19917, NA18576, NA18622, NA18623, NA18617, HG00692, HG01047, NA18636, NA18592, HG00315, HG00330, NA18609, NA19985, NA11831, NA19075, HG00174, HG00284, NA18634, HG00662, HG01497, NA19360, HG01437, NA19080, NA18620, NA19172, NA19759, NA18633, HG00653, NA18572, NA19374, NA19703, HG00268, NA19375, HG00263, NA19005, NA18502, HG00560, HG01073, HG00282, HG00232, HG01069, HG00478, HG00277, HG00103, HG00513, HG01070, HG01060, NA18543, NA18582, HG01137, HG00590, HG01190, NA19729, NA19078, HG00650, HG00138, HG00663, NA18631, HG00311, NA18602, HG01390, NA19063, NA19655, HG01366, NA18571, NA19371, HG01177, HG00320, HG00324, HG00625, NA18532, NA18549, HG00442, HG00473, HG00684, NA19758, HG00671, HG00272, HG00702, HG00271, NA19746, HG00531, HG00327
Known GenesPPFIBP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658186
Frequency
Sample Size1151
Observed Gain0
Observed Loss152
Observed Complex0
Frequencyn/a


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