A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986733



Internal ID12979238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:131041463..131429169hg38UCSC Ensembl
Innerchr4:131962618..132350324hg19UCSC Ensembl
Innerchr4:132182068..132569774hg18UCSC Ensembl
Innerchr4:132320223..132707929hg17UCSC Ensembl
Cytoband4q28.3
Allele length
AssemblyAllele length
hg38387707
hg19387707
hg18387707
hg17387707
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)essv6986733
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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