A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978843



Internal ID12979204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131041240..131409240hg38UCSC Ensembl
Innerchr4:131962395..132330395hg19UCSC Ensembl
Innerchr4:132181845..132549845hg18UCSC Ensembl
Innerchr4:132320000..132688000hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38368001
hg19368001
hg18368001
hg17368001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35031
Supporting Variants
SamplesNA12740
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978843
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