A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3646026



Internal ID7032771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:49726372..49727399hg38UCSC Ensembl
Innerchr20:49726504..49727349hg38UCSC Ensembl
Outerchr20:49726222..49727549hg38UCSC Ensembl
chr20:48342909..48343936hg19UCSC Ensembl
Innerchr20:48343041..48343886hg19UCSC Ensembl
Outerchr20:48342759..48344086hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg381028
hg191028
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16198915, essv16198926, essv16198923, essv16198906, essv16198909, essv16198920, essv16198924, essv16198908, essv16198907, essv16198921, essv16198919, essv16198922, essv16198903, essv16198912, essv16198914, essv16198911, essv16198904, essv16198916, essv16198910, essv16198913, essv16198917, essv16198905, essv16198918, essv16198925
SamplesNA18508, HG03772, HG03680, HG03436, NA21108, HG02505, HG02642, HG03696, HG02449, HG02497, HG03967, HG04159, NA19440, HG04188, HG03809, HG03899, HG03695, HG03729, HG04140, HG03733, HG03615, HG03894, NA19431, HG03989
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3646026
Frequency
Sample Size2504
Observed Gain0
Observed Loss24
Observed Complex0
Frequencyn/a


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