A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7376n54



Internal ID22775271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240884036..240921494hg38UCSC Ensembl
chr2:241823453..241860911hg19UCSC Ensembl
chr2:241472126..241509584hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3837459
hg1937459
hg1837459
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv584887, nsv584888
SamplesHGDP00696
Known GenesC2orf54
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv7376n54
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