A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15987640



Internal ID831539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8009243..8014498hg38UCSC Ensembl
Innerchr19:8009743..8013998hg38UCSC Ensembl
Outerchr19:8008243..8015498hg38UCSC Ensembl
chr19:8074127..8079382hg19UCSC Ensembl
Innerchr19:8074627..8078882hg19UCSC Ensembl
Outerchr19:8073127..8080382hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg385256
hg195256
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643599
Supporting Variants
SamplesHG00421
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15987640
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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