A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982778



Internal ID12975530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:44966555..45003855hg38UCSC Ensembl
Innerchr4:44968572..45005872hg19UCSC Ensembl
Innerchr4:44663329..44700629hg18UCSC Ensembl
Innerchr4:44809500..44846800hg17UCSC Ensembl
Cytoband4p12
Allele length
AssemblyAllele length
hg3837301
hg1937301
hg1837301
hg1737301
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752047
Supporting Variants
SamplesBEC_592
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982778
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