A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556426



Internal ID18757502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42882349..43025206hg38UCSC Ensembl
Outerchr19:42854356..43042848hg38UCSC Ensembl
Innerchr19:43386501..43529358hg19UCSC Ensembl
Outerchr19:43358508..43547000hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38188493
hg19188493
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv223e215
Supporting Variantsessv9755173
Samples
Known GenesPSG1, PSG10P, PSG11, PSG6, PSG7
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556426
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