A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659273



Internal ID9578692
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:178921361..178926196hg38UCSC Ensembl
chr5:178348362..178353197hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg384836
hg194836
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6460940, essv5536030, essv6080385, essv5579456, essv5894801, essv5475662, essv5669204, essv6298133, essv5959013, essv5607378, essv5534258, essv5759070, essv5717759, essv6096495, essv5500402, essv5707660, essv5526808, essv5742718, essv6242709, essv5762480, essv6177455, essv5638264, essv6465691, essv6567378, essv6282874, essv5898582, essv6171054, essv5424464, essv6260207, essv6507009, essv6328704, essv5706160, essv6347990, essv6078005, essv5819409, essv6267048, essv6440627, essv6283842, essv6585973, essv5435052, essv5561976, essv6513893, essv6067919, essv5966238, essv6358705, essv6584729, essv6527094, essv6449520, essv5407089, essv5908780, essv6410907, essv6177054, essv6580623, essv5673538, essv6546898, essv6393577, essv5575087, essv6372638, essv6175863, essv5494556, essv5652373, essv5620347, essv6069047, essv5858101, essv6302540, essv5663053, essv5612513, essv6216962, essv5676764, essv5738898, essv6486031, essv6484596, essv6063493, essv6103791, essv5831203, essv6396908, essv6352465, essv6474040, essv6242860, essv6478296, essv5739620, essv6239438, essv5980798, essv5675151, essv5710773, essv6028223, essv5527959, essv5660093, essv6004661, essv5921880, essv6325078, essv6390654, essv5721244, essv5646185, essv6471021, essv5928661, essv5761067, essv5425351, essv6299823, essv6378619, essv5399304, essv6202016, essv5849983, essv5522421, essv6247738, essv6266727, essv5926411, essv6569743, essv5913488, essv6518084, essv5917106, essv5730470, essv5577207
SamplesHG00734, HG00318, NA12748, NA11930, HG01075, HG00551, HG01342, HG00369, HG01083, HG00186, HG00736, NA11918, NA06989, NA19670, NA11931, HG00189, NA19788, NA20808, HG01492, NA20342, HG00148, NA20786, NA20805, HG00111, HG00187, NA07051, NA11893, HG00331, HG00146, NA20798, HG00253, HG00247, HG00554, HG01521, HG00256, HG00244, HG00266, HG01107, HG00339, HG01148, NA18912, NA12843, HG01140, NA18508, HG01375, HG00308, NA07357, NA20504, NA20807, HG01124, NA20127, NA07048, HG00149, HG00338, NA20282, NA20520, HG00637, HG00243, NA12830, NA12234, NA12144, NA19676, HG00306, HG00373, NA19360, HG00159, HG01097, NA07346, NA19129, HG01191, NA20536, HG01066, NA20512, HG00325, NA20790, HG00185, NA20795, NA20753, HG00147, HG00176, HG01073, HG00273, HG01170, HG01176, NA20814, HG00116, HG00277, NA19347, HG01494, HG00246, HG01094, NA10851, NA20756, HG01095, NA20799, HG01112, HG00311, HG01390, NA20812, HG01366, HG00367, NA12045, HG00275, NA12717, NA19350, HG00137, HG01110, NA19758, HG00336, NA20772, NA20538, NA20519, HG00312
Known GenesZFP2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659273
Frequency
Sample Size1151
Observed Gain0
Observed Loss113
Observed Complex0
Frequencyn/a


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