A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986906



Internal ID12980466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:123247407..123280407hg38UCSC Ensembl
Innerchr5:122583101..122616101hg19UCSC Ensembl
Innerchr5:122611000..122644000hg18UCSC Ensembl
Innerchr5:122611000..122644000hg17UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3833001
hg1933001
hg1833001
hg1733001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34878
Supporting Variants
SamplesNA18579
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986906
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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