A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4389n100



Internal ID19014757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:14244308..14284786hg38UCSC Ensembl
chr21:15616629..15657107hg19UCSC Ensembl
chr21:14538500..14578978hg18UCSC Ensembl
Cytoband21q11.2
Allele length
AssemblyAllele length
hg3840479
hg1940479
hg1840479
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062862, nsv1067478, nsv1062500, nsv1062532
Samples
Known GenesABCC13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4389n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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