A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6978865



Internal ID12979247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131041240..131429240hg38UCSC Ensembl
Innerchr4:131962395..132350395hg19UCSC Ensembl
Innerchr4:132181845..132569845hg18UCSC Ensembl
Innerchr4:132320000..132708000hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38388001
hg19388001
hg18388001
hg17388001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34850
Supporting Variants
SamplesNA12751
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6978865
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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