A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2315n54



Internal ID22770210
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:6134450..6183809hg38UCSC Ensembl
chr12:6243616..6292975hg19UCSC Ensembl
chr12:6113877..6163236hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3849360
hg1949360
hg1849360
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557209, nsv557215, nsv557210
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2315n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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