A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13373817



Internal ID1370424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:148486..193583hg38UCSC Ensembl
chr9:148486..193583hg19UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3845098
hg1945098
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3619172
Supporting Variants
SamplesHG01241
Known GenesCBWD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13373817
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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