A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981729



Internal ID12972595
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:699075..790642hg38UCSC Ensembl
Innerchr5:699190..790757hg19UCSC Ensembl
Innerchr5:752190..843757hg18UCSC Ensembl
Innerchr5:752190..843757hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3891568
hg1991568
hg1891568
hg1791568
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752079
Supporting Variants
SamplesBEC_329
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981729
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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