A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15989249



Internal ID1079623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:8628906..8631151hg38UCSC Ensembl
Innerchr19:8628943..8631115hg38UCSC Ensembl
Outerchr19:8628870..8631188hg38UCSC Ensembl
chr19:8738356..8740601hg19UCSC Ensembl
Innerchr19:8738393..8740565hg19UCSC Ensembl
Outerchr19:8738320..8740638hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382246
hg192246
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643622
Supporting Variants
SamplesHG00704
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15989249
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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