A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363459



Internal ID15210437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:43230392..43230405hg38UCSC Ensembl
Innerchr20:43230368..43230429hg38UCSC Ensembl
Outerchr20:43230355..43230442hg38UCSC Ensembl
chr20:41859032..41859045hg19UCSC Ensembl
Innerchr20:41859008..41859069hg19UCSC Ensembl
Outerchr20:41858995..41859082hg19UCSC Ensembl
chr20:41292446..41292459hg18UCSC Ensembl
Innerchr20:41292483..41292422hg18UCSC Ensembl
Outerchr20:41292409..41292496hg18UCSC Ensembl
Cytoband20q13.11
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7866163
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363459
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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