A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982218



Internal ID12973387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr11:84119371..84129229hg38UCSC Ensembl
Innerchr11:83830414..83840272hg19UCSC Ensembl
Innerchr11:83508062..83517920hg18UCSC Ensembl
Innerchr11:83508062..83517920hg17UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg389859
hg199859
hg189859
hg179859
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751034
Supporting Variants
SamplesBEC_404
Known GenesDLG2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982218
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