A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990403



Internal ID12634013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:225443702..225488880hg38UCSC Ensembl
Innerchr1:225631404..225676582hg19UCSC Ensembl
Innerchr1:223698027..223743205hg18UCSC Ensembl
Innerchr1:221938139..221983317hg17UCSC Ensembl
Cytoband1q42.12
Allele length
AssemblyAllele length
hg3845179
hg1945179
hg1845179
hg1745179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34905
Supporting Variants
SamplesNA18621
Known GenesENAH
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990403
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