A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16123817



Internal ID6125633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:4585728..4590694hg38UCSC Ensembl
Innerchr20:4585774..4590648hg38UCSC Ensembl
Outerchr20:4585682..4590740hg38UCSC Ensembl
chr20:4566374..4571340hg19UCSC Ensembl
Innerchr20:4566420..4571294hg19UCSC Ensembl
Outerchr20:4566328..4571386hg19UCSC Ensembl
Cytoband20p13
Allele length
AssemblyAllele length
hg384967
hg194967
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3645080
Supporting Variants
SamplesHG01403
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16123817
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