A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2294n54



Internal ID20135718
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:3198011..3198529hg38UCSC Ensembl
chr12:3307177..3307695hg19UCSC Ensembl
chr12:3177438..3177956hg18UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38519
hg19519
hg18519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557102, nsv557103, nsv557104
Samples
Known GenesTSPAN9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2294n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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