A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643512



Internal ID7030271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4808078..4814119hg38UCSC Ensembl
Innerchr19:4808139..4814059hg38UCSC Ensembl
Outerchr19:4808018..4814180hg38UCSC Ensembl
chr19:4808090..4814131hg19UCSC Ensembl
Innerchr19:4808151..4814071hg19UCSC Ensembl
Outerchr19:4808030..4814192hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg386042
hg196042
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15982236, essv15982235
SamplesHG01047, NA19072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643512
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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