A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv12445n54



Internal ID22780340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144970446..145049322hg38UCSC Ensembl
chr8:146195832..146274708hg19UCSC Ensembl
chr8:146166636..146245512hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3878877
hg1978877
hg1878877
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv612975, nsv612973
Samples1780862275_A
Known GenesTMED10P1, ZNF252P, ZNF252P-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv12445n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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