A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983731



Internal ID12629145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:145773515..145969515hg38UCSC Ensembl
Innerchr3:145491302..145687302hg19UCSC Ensembl
Innerchr3:146973992..147169992hg18UCSC Ensembl
Innerchr3:146974000..147170000hg17UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg38196001
hg19196001
hg18196001
hg17196001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751980
Supporting Variants
SamplesBEC_618
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983731
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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