A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985676



Internal ID12974011
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:189178049..189356611hg38UCSC Ensembl
Innerchr1:189147180..189325741hg19UCSC Ensembl
Innerchr1:187413803..187592364hg18UCSC Ensembl
Innerchr1:185878837..186057398hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38178563
hg19178562
hg18178562
hg17178562
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750819
Supporting Variants
SamplesBEC_492
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985676
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