A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15990171



Internal ID6648264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:9518151..9524541hg38UCSC Ensembl
Innerchr19:9518151..9524541hg38UCSC Ensembl
Outerchr19:9517651..9525041hg38UCSC Ensembl
chr19:9628827..9635217hg19UCSC Ensembl
Innerchr19:9628827..9635217hg19UCSC Ensembl
Outerchr19:9628327..9635717hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg386391
hg196391
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643635
Supporting Variants
SamplesNA20801
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15990171
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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