A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12331n54



Internal ID22780226
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:130357985..130358860hg38UCSC Ensembl
chr8:131370231..131371106hg19UCSC Ensembl
chr8:131439413..131440288hg18UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38876
hg19876
hg18876
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612293, nsv612286, nsv612291, nsv612292
Samples
Known GenesASAP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12331n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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