A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978570



Internal ID12632081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140299460..140459460hg38UCSC Ensembl
Innerchr3:140018302..140178302hg19UCSC Ensembl
Innerchr3:141500992..141660992hg18UCSC Ensembl
Innerchr3:141501000..141661000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38160001
hg19160001
hg18160001
hg17160001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34489
Supporting Variants
SamplesNA11994
Known GenesCLSTN2
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978570
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