A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2918n54



Internal ID20136342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120903674..120926521hg38UCSC Ensembl
chr12:121341477..121364324hg19UCSC Ensembl
chr12:119825860..119848707hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3822848
hg1922848
hg1822848
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560453, nsv560448, nsv560452
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2918n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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