A curated catalogue of human genomic structural variation




Variant Details

Variant: essv16069687



Internal ID775871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:46666730..46671540hg38UCSC Ensembl
Innerchr19:46666736..46671535hg38UCSC Ensembl
Outerchr19:46666725..46671546hg38UCSC Ensembl
chr19:47169987..47174797hg19UCSC Ensembl
Innerchr19:47169993..47174792hg19UCSC Ensembl
Outerchr19:47169982..47174803hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg384811
hg194811
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3644534
Supporting Variants
SamplesHG00367
Known GenesDACT3-AS1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv16069687
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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