A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7866171



Internal ID13318289
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:51125215..51125228hg38UCSC Ensembl
Innerchr20:51125217..51125226hg38UCSC Ensembl
Outerchr20:51125213..51125230hg38UCSC Ensembl
chr20:49741752..49741765hg19UCSC Ensembl
Innerchr20:49741754..49741763hg19UCSC Ensembl
Outerchr20:49741750..49741767hg19UCSC Ensembl
chr20:49175159..49175172hg18UCSC Ensembl
Innerchr20:49175161..49175170hg18UCSC Ensembl
Outerchr20:49175157..49175174hg18UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3417627
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7866171
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