A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15991955



Internal ID978614
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:12372885..12375181hg38UCSC Ensembl
Innerchr19:12372933..12375133hg38UCSC Ensembl
Outerchr19:12372837..12375229hg38UCSC Ensembl
chr19:12483699..12485995hg19UCSC Ensembl
Innerchr19:12483747..12485947hg19UCSC Ensembl
Outerchr19:12483651..12486043hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382297
hg192297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3643698
Supporting Variants
SamplesHG00608
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15991955
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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