A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16186565



Internal ID412081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:40098493..40104021hg38UCSC Ensembl
Innerchr20:40098493..40104021hg38UCSC Ensembl
Outerchr20:40098252..40104243hg38UCSC Ensembl
chr20:38727134..38732662hg19UCSC Ensembl
Innerchr20:38727134..38732662hg19UCSC Ensembl
Outerchr20:38726893..38732884hg19UCSC Ensembl
Cytoband20q12
Allele length
AssemblyAllele length
hg385529
hg195529
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645820
Supporting Variants
SamplesHG00123
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16186565
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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