A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16068461



Internal ID4981800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46027351..46030402hg38UCSC Ensembl
Innerchr19:46027351..46030402hg38UCSC Ensembl
Outerchr19:46027299..46030468hg38UCSC Ensembl
chr19:46530609..46533660hg19UCSC Ensembl
Innerchr19:46530609..46533660hg19UCSC Ensembl
Outerchr19:46530557..46533726hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg383052
hg193052
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644518
Supporting Variants
SamplesNA18486
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16068461
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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