A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16071043



Internal ID5588980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:47293073..47298014hg38UCSC Ensembl
Innerchr19:47293573..47297514hg38UCSC Ensembl
Outerchr19:47292073..47299014hg38UCSC Ensembl
chr19:47796330..47801271hg19UCSC Ensembl
Innerchr19:47796830..47800771hg19UCSC Ensembl
Outerchr19:47795330..47802271hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384942
hg194942
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644549
Supporting Variants
SamplesNA19027
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16071043
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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