A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2670124



Internal ID9589543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:6224614..6227131hg38UCSC Ensembl
Outerchr16:6224457..6227284hg38UCSC Ensembl
Innerchr16:6274615..6277132hg19UCSC Ensembl
Outerchr16:6274458..6277285hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg382828
hg192828
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6177886, essv5527721
SamplesHG00607, HG00578
Known GenesRBFOX1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2670124
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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