A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752016



Internal ID12985568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75342927..75590743hg38UCSC Ensembl
Innerchr3:75392078..75639894hg19UCSC Ensembl
Innerchr3:75474768..75722584hg18UCSC Ensembl
Innerchr3:75474768..75722584hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38247817
hg19247817
hg18247817
hg17247817
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv180e55
Supporting Variantsessv6989535, essv6981870
SamplesBEC_496
Known GenesFAM86DP
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)esv2752016
Frequency
Sample Size771
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer