A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15982223



Internal ID1981817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:4622613..4631870hg38UCSC Ensembl
Innerchr19:4622613..4631870hg38UCSC Ensembl
Outerchr19:4622382..4632106hg38UCSC Ensembl
chr19:4622625..4631882hg19UCSC Ensembl
Innerchr19:4622625..4631882hg19UCSC Ensembl
Outerchr19:4622394..4632118hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg389258
hg199258
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643507
Supporting Variants
SamplesHG01843
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15982223
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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