A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16091003



Internal ID6092819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54052282..54057401hg38UCSC Ensembl
Innerchr19:54052283..54057401hg38UCSC Ensembl
Outerchr19:54052282..54057402hg38UCSC Ensembl
chr19:54555536..54560655hg19UCSC Ensembl
Innerchr19:54555537..54560655hg19UCSC Ensembl
Outerchr19:54555536..54560656hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg385120
hg195120
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644779
Supporting Variants
SamplesNA19172
Known GenesVSTM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16091003
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