A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3530n100



Internal ID22789617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:40252142..40275453hg38UCSC Ensembl
chr19:40758049..40781360hg19UCSC Ensembl
chr19:45449889..45473200hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3823312
hg1923312
hg1823312
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063993, nsv1059884, nsv1064502
Samples
Known GenesAKT2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3530n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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