A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999397



Internal ID7064916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:42734560..42744918hg38UCSC Ensembl
Outerchr5:42734662..42745020hg19UCSC Ensembl
Outerchr5:42770419..42780777hg18UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810359
hg1910359
hg1810359
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563978
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999397
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