A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987540



Internal ID3687415
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:7944959..7945440hg38UCSC Ensembl
Innerchr19:7944961..7945439hg38UCSC Ensembl
Outerchr19:7944958..7945442hg38UCSC Ensembl
chr19:8009844..8010325hg19UCSC Ensembl
Innerchr19:8009846..8010324hg19UCSC Ensembl
Outerchr19:8009843..8010327hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38482
hg19482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643597
Supporting Variants
SamplesHG03294
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987540
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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