A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866167



Internal ID12971605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:47540575..47540589hg38UCSC Ensembl
Innerchr20:47540550..47540614hg38UCSC Ensembl
Outerchr20:47540536..47540628hg38UCSC Ensembl
chr20:46169319..46169333hg19UCSC Ensembl
Innerchr20:46169294..46169358hg19UCSC Ensembl
Outerchr20:46169280..46169372hg19UCSC Ensembl
chr20:45602726..45602740hg18UCSC Ensembl
Innerchr20:45602765..45602701hg18UCSC Ensembl
Outerchr20:45602687..45602779hg18UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3428109
Supporting Variants
SamplesNA12005
Known GenesNCOA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866167
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