A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11248n54



Internal ID20144672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:29169736..29497091hg38UCSC Ensembl
chr7:29209352..29536707hg19UCSC Ensembl
chr7:29175877..29503232hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38327356
hg19327356
hg18327356
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606485, nsv606483, nsv606484
Samples
Known GenesCHN2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11248n54
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