A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982606



Internal ID12975239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:107121401..107225626hg38UCSC Ensembl
Innerchr5:106457102..106561327hg19UCSC Ensembl
Innerchr5:106485001..106589226hg18UCSC Ensembl
Innerchr5:106485001..106589226hg17UCSC Ensembl
Cytoband5q21.3
Allele length
AssemblyAllele length
hg38104226
hg19104226
hg18104226
hg17104226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752056
Supporting Variants
SamplesBEC_57
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982606
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