A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987725



Internal ID37316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4807093..4807147hg38UCSC Ensembl
chr3:4848777..4848831hg19UCSC Ensembl
chr3:4823777..4823831hg18UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3571891
SamplesHuRef
Known GenesITPR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987725
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