A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12257n54



Internal ID22780152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:107493197..107493957hg38UCSC Ensembl
chr8:108505425..108506185hg19UCSC Ensembl
chr8:108574601..108575361hg18UCSC Ensembl
Cytoband8q23.1
Allele length
AssemblyAllele length
hg38761
hg19761
hg18761
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv611871, nsv611872
Samples
Known GenesANGPT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12257n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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