A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981671



Internal ID12972482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:166294289..166314180hg38UCSC Ensembl
Innerchr5:165721294..165741185hg19UCSC Ensembl
Innerchr5:165653872..165673763hg18UCSC Ensembl
Innerchr5:165653872..165673763hg17UCSC Ensembl
Cytoband5q34
Allele length
AssemblyAllele length
hg3819892
hg1919892
hg1819892
hg1719892
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981671
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer