A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991952



Internal ID5445766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12313426..12315475hg38UCSC Ensembl
Innerchr19:12313426..12315475hg38UCSC Ensembl
Outerchr19:12313137..12315726hg38UCSC Ensembl
chr19:12424240..12426289hg19UCSC Ensembl
Innerchr19:12424240..12426289hg19UCSC Ensembl
Outerchr19:12423951..12426540hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382050
hg192050
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643697
Supporting Variants
SamplesNA18963
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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