A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003677



Internal ID2794955
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:17465840..17470094hg38UCSC Ensembl
Innerchr19:17465862..17470072hg38UCSC Ensembl
Outerchr19:17465818..17470116hg38UCSC Ensembl
chr19:17576649..17580903hg19UCSC Ensembl
Innerchr19:17576671..17580881hg19UCSC Ensembl
Outerchr19:17576627..17580925hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg384255
hg194255
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643819
Supporting Variants
SamplesHG02465
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003677
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