A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2424n54



Internal ID22770319
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27779899..27780963hg38UCSC Ensembl
chr12:27932832..27933896hg19UCSC Ensembl
chr12:27824099..27825163hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg381065
hg191065
hg181065
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557843, nsv557853, nsv557841, nsv557833, nsv557854
Samples
Known GenesKLHL42
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2424n54
Frequency
Sample Size17421
Observed Gain8
Observed Loss0
Observed Complex0
Frequencyn/a


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