A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv6792n54



Internal ID20140216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:39050710..39399247hg38UCSC Ensembl
chr2:39277851..39626388hg19UCSC Ensembl
chr2:39131355..39479892hg18UCSC Ensembl
Cytoband2p22.1
Allele length
AssemblyAllele length
hg38348538
hg19348538
hg18348538
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv581493, nsv581494
Samples
Known GenesCDKL4, MAP4K3, SOS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv6792n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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