A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616629



Internal ID6656825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:23152175..23159377hg38UCSC Ensembl
chr8:23009688..23016890hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg387203
hg197203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13134710, essv13134733, essv13134706, essv13134729, essv13134688, essv13134708, essv13134686, essv13134700, essv13134703, essv13134705, essv13134690, essv13134681, essv13134722, essv13134685, essv13134721, essv13134723, essv13134725, essv13134712, essv13134707, essv13134709, essv13134684, essv13134731, essv13134697, essv13134692, essv13134714, essv13134702, essv13134699, essv13134701, essv13134711, essv13134719, essv13134693, essv13134683, essv13134724, essv13134682, essv13134695, essv13134689, essv13134732, essv13134716, essv13134696, essv13134728, essv13134691, essv13134715, essv13134713, essv13134698, essv13134726, essv13134687, essv13134694, essv13134727, essv13134718, essv13134717, essv13134704, essv13134734, essv13134730, essv13134720
SamplesHG03160, NA18861, HG03567, NA18871, HG04156, NA21110, HG02816, HG03129, NA19331, HG01816, NA21124, HG02722, HG03829, HG02652, HG02944, HG00553, NA19144, HG01029, NA20861, HG02805, NA18868, HG02836, HG02053, NA19314, HG03235, HG02654, HG01028, NA19309, HG03436, HG03926, HG02016, HG03445, NA21119, NA20282, HG03225, HG03085, NA19238, HG02594, HG04173, HG03472, HG03931, HG02651, HG03072, NA21092, HG02614, HG03228, NA21103, NA21101, NA21089, HG01804, HG02837, HG02505, HG03824, HG02610
Known GenesTNFRSF10D
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616629
Frequency
Sample Size2504
Observed Gain54
Observed Loss0
Observed Complex0
Frequencyn/a


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