A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16054380



Internal ID3230153
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:39058359..39059856hg38UCSC Ensembl
Innerchr19:39058372..39059844hg38UCSC Ensembl
Outerchr19:39058347..39059869hg38UCSC Ensembl
chr19:39548999..39550496hg19UCSC Ensembl
Innerchr19:39549012..39550484hg19UCSC Ensembl
Outerchr19:39548987..39550509hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg381498
hg191498
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644321
Supporting Variants
SamplesHG02840
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16054380
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