A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3643698



Internal ID7030457
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15991956, essv15991955, essv15991954
SamplesHG00608, HG00451, HG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3643698
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer