A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16003943



Internal ID6005759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:18455241..18455855hg38UCSC Ensembl
Innerchr19:18455243..18455854hg38UCSC Ensembl
Outerchr19:18455240..18455857hg38UCSC Ensembl
chr19:18566051..18566665hg19UCSC Ensembl
Innerchr19:18566053..18566664hg19UCSC Ensembl
Outerchr19:18566050..18566667hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38615
hg19615
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643838
Supporting Variants
SamplesHG00096
Known GenesELL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16003943
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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