A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16035901



Internal ID820948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:30598030..30614131hg38UCSC Ensembl
Innerchr19:30598530..30613631hg38UCSC Ensembl
Outerchr19:30597030..30615131hg38UCSC Ensembl
chr19:31088937..31105038hg19UCSC Ensembl
Innerchr19:31089437..31104538hg19UCSC Ensembl
Outerchr19:31087937..31106038hg19UCSC Ensembl
Cytoband19q12
Allele length
AssemblyAllele length
hg3816102
hg1916102
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644140
Supporting Variants
SamplesHG00407
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16035901
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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