A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv839n54



Internal ID20134263
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228139958..228183397hg38UCSC Ensembl
chr1:228327659..228371098hg19UCSC Ensembl
chr1:226394282..226437721hg18UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg3843440
hg1943440
hg1843440
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv549289, nsv549288
Samples
Known GenesGJC2, GUK1, IBA57, IBA57-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv839n54
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