A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752008



Internal ID12638874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:43243877..43319387hg38UCSC Ensembl
Innerchr3:43285369..43360879hg19UCSC Ensembl
Innerchr3:43260373..43335883hg18UCSC Ensembl
Innerchr3:43260373..43335883hg17UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg3875511
hg1975511
hg1875511
hg1775511
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983757, essv6983756, essv6986502
SamplesBEC_621
Known GenesSNRK
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)esv2752008
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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