A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2447n54



Internal ID20135871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:29691593..29698786hg38UCSC Ensembl
chr12:29844526..29851719hg19UCSC Ensembl
chr12:29735793..29742986hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg387194
hg197194
hg187194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv557930, nsv557939, nsv557953, nsv557956
Samples
Known GenesTMTC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2447n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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