A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981670



Internal ID12972490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166121417..166620417hg38UCSC Ensembl
Innerchr5:165548422..166047422hg19UCSC Ensembl
Innerchr5:165481000..165980000hg18UCSC Ensembl
Innerchr5:165481000..165980000hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg38499001
hg19499001
hg18499001
hg17499001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752063
Supporting Variants
SamplesBEC_314
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981670
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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