A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978573



Internal ID12632084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:140613460..140750460hg38UCSC Ensembl
Innerchr3:140332302..140469302hg19UCSC Ensembl
Innerchr3:141814992..141951992hg18UCSC Ensembl
Innerchr3:141815000..141952000hg17UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38137001
hg19137001
hg18137001
hg17137001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34489
Supporting Variants
SamplesNA11994
Known GenesTRIM42
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978573
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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