A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563887



Internal ID7034987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:147464246..147475240hg38UCSC Ensembl
Outerchr5:146843809..146854803hg19UCSC Ensembl
Outerchr5:146824002..146834996hg18UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3810995
hg1910995
hg1810995
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv992285
Supporting Variants
SamplesHuRef
Known GenesDPYSL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563887
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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