A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993189



Internal ID6729150
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:64165758..64178754hg38UCSC Ensembl
Outerchr1:64631441..64644437hg19UCSC Ensembl
Outerchr1:64404029..64417025hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg3812997
hg1912997
hg1812997
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564882
SamplesHuRef
Known GenesROR1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993189
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