A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984276



Internal ID12976711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42920898..43166443hg38UCSC Ensembl
Innerchr19:43425050..43670595hg19UCSC Ensembl
Innerchr19:48116890..48362435hg18UCSC Ensembl
Innerchr19:48116890..48362435hg17UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38245546
hg19245546
hg18245546
hg17245546
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751794
Supporting Variants
SamplesBEC_683
Known GenesPSG11, PSG2, PSG7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984276
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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