A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985569



Internal ID12972105
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:3078871..3143095hg38UCSC Ensembl
Innerchr5:3078985..3143209hg19UCSC Ensembl
Innerchr5:3131985..3196209hg18UCSC Ensembl
Innerchr5:3131985..3196209hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3864225
hg1964225
hg1864225
hg1764225
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752065
Supporting Variants
SamplesBEC_191
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985569
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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