A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2420n54



Internal ID20135844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27593820..27679375hg38UCSC Ensembl
chr12:27746753..27832308hg19UCSC Ensembl
chr12:27638020..27723575hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3885556
hg1985556
hg1885556
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557820, nsv557821
SamplesHGDP00733, HGDP00693
Known GenesPPFIBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2420n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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