A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12254n54



Internal ID22780149
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107492679..107493758hg38UCSC Ensembl
chr8:108504907..108505986hg19UCSC Ensembl
chr8:108574083..108575162hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg381080
hg191080
hg181080
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611857, nsv611855, nsv611858, nsv611863, nsv611856, nsv611859, nsv611864
Samples
Known GenesANGPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12254n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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