A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630861



Internal ID7017675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:116963971..116979325hg38UCSC Ensembl
Innerchr12:116963971..116979325hg38UCSC Ensembl
Outerchr12:116963471..116979825hg38UCSC Ensembl
chr12:117401776..117417130hg19UCSC Ensembl
Innerchr12:117401776..117417130hg19UCSC Ensembl
Outerchr12:117401276..117417630hg19UCSC Ensembl
Cytoband12q24.22
Allele length
AssemblyAllele length
hg3815355
hg1915355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14611406
SamplesHG01516
Known GenesFBXW8, LOC100506551
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630861
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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