A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752004



Internal ID12985556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:3979832..4163939hg38UCSC Ensembl
Innerchr3:4021516..4205623hg19UCSC Ensembl
Innerchr3:3996516..4180623hg18UCSC Ensembl
Innerchr3:3996516..4180623hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg38184108
hg19184108
hg18184108
hg17184108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981720, essv6988006, essv6988005, essv6981721
SamplesBEC_328
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752004
Frequency
Sample Size771
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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