A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2930n54



Internal ID18995106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123911435..123915714hg38UCSC Ensembl
chr12:124395982..124400261hg19UCSC Ensembl
chr12:122961935..122966214hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg384280
hg194280
hg184280
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560531, nsv560515
Samples
Known GenesDNAH10
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2930n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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