A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556016



Internal ID18410406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:10101764..10103753hg38UCSC Ensembl
Outerchr19:10101510..10103970hg38UCSC Ensembl
Innerchr19:10212440..10214429hg19UCSC Ensembl
Outerchr19:10212186..10214646hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg382461
hg192461
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9754763
Samples
Known GenesANGPTL6
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556016
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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