A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2667137



Internal ID9933242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16323374..16330727hg38UCSC Ensembl
Outerchr1:16323217..16330880hg38UCSC Ensembl
Innerchr1:16649869..16657222hg19UCSC Ensembl
Outerchr1:16649712..16657375hg19UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg387664
hg197664
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6419344
SamplesHG00732
Known GenesFBXO42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2667137
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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