A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990451



Internal ID12634677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:110090048..110223048hg38UCSC Ensembl
Innerchr2:110847625..110980625hg19UCSC Ensembl
Innerchr2:110204914..110337914hg18UCSC Ensembl
Innerchr2:110205000..110338000hg17UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38133001
hg19133001
hg18133001
hg17133001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34912
Supporting Variants
SamplesNA18966
Known GenesLINC00116, MALL, NPHP1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990451
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