A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556479



Internal ID18410869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:46389407..46389458hg38UCSC Ensembl
Outerchr19:46389403..46389460hg38UCSC Ensembl
Innerchr19:46892664..46892715hg19UCSC Ensembl
Outerchr19:46892660..46892717hg19UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3858
hg1958
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755226
Samples
Known GenesPPP5C
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556479
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