A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671040



Internal ID9937145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:15272584..15272716hg38UCSC Ensembl
chr3:15314091..15314223hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg38133
hg19133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv852e199
Supporting Variantsessv5445981, essv5899244, essv5581522, essv6142637, essv6550579, essv6014036, essv6473827, essv6185989, essv6553487, essv6006087, essv6393323, essv5672771, essv5988345, essv5928832, essv6089204, essv6063360, essv6161845, essv6042957, essv5721233, essv6382662, essv6097848, essv6041266, essv6120762, essv5849662, essv5604675, essv6523339, essv6537508, essv6126665, essv5824040, essv5412487, essv6295359, essv5718075, essv6057191, essv6231961, essv6088004, essv5553328, essv5980802, essv6023326, essv6263839, essv5793228, essv5664832, essv5622073, essv6577386, essv5609069, essv6272430, essv5853979, essv6481475, essv6239428, essv5471224, essv5613734, essv5970798, essv6413621, essv6094034, essv6229352, essv5863812, essv5540254, essv6181432, essv5534686, essv5635975, essv6468976, essv6223500, essv6107897, essv5859300, essv5615273, essv5441697, essv6505554, essv5488310, essv6167672, essv6573407, essv5760308, essv5766040, essv6433921, essv6314625, essv6500290, essv6225799, essv6308358, essv5745577, essv5398607, essv6422665, essv6018867, essv5972236, essv5705554, essv6086152, essv6102379, essv6408564, essv5735704, essv6430594, essv5934451, essv6312759, essv5450657
SamplesNA19394, NA18502, HG01173, HG01356, NA19397, HG00608, HG00671, NA19399, NA11933, NA19359, NA18545, NA19377, NA18606, HG01518, HG00654, NA19190, NA18510, NA19374, NA19396, NA19381, HG01350, NA19379, NA18519, NA19382, HG01351, NA18923, NA20756, NA18916, NA19138, NA19404, HG01134, HG01069, HG01067, NA19383, HG00683, HG00236, NA18977, NA19385, NA19317, HG00427, NA19451, NA18638, HG01124, HG01136, HG00282, NA19403, HG00653, HG00701, HG00657, NA19391, HG00556, NA18566, NA18573, NA19114, HG00684, NA18856, NA18532, HG01334, NA18570, NA18858, NA18593, NA19401, NA19375, NA18632, NA19147, NA18559, NA19331, HG00278, NA19380, HG01174, HG01375, NA19428, NA20516, NA19360, HG00620, NA19376, NA19328, HG00421, HG00656, NA18609, NA19116, NA18552, NA18505, HG01082, NA19312, HG01125, NA20322, NA18511, NA18612, NA18965
Known GenesSH3BP5
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671040
Frequency
Sample Size1151
Observed Gain0
Observed Loss90
Observed Complex0
Frequencyn/a


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