A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752065



Internal ID12985617
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3076739..3154556hg38UCSC Ensembl
Innerchr5:3076853..3154670hg19UCSC Ensembl
Innerchr5:3129853..3207670hg18UCSC Ensembl
Innerchr5:3129853..3207670hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3877818
hg1977818
hg1877818
hg1777818
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981430, essv6985569, essv6981431, essv6981429
SamplesBEC_191
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)esv2752065
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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