A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890659



Internal ID18838057
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:79366031..79418042hg38UCSC Ensembl
Outerchr5:79366031..79425620hg38UCSC Ensembl
Innerchr5:78661854..78713865hg19UCSC Ensembl
Outerchr5:78661854..78721443hg19UCSC Ensembl
Innerchr5:78697610..78749621hg18UCSC Ensembl
Outerchr5:78697610..78757199hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3859590
hg1959590
hg1859590
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25787864, essv25793176, essv25787843, essv25787811
Samples
Known GenesHOMER1
MethodSNP array
Analysis
PlatformIllumina HumanHap 550
Illumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890659
Frequency
Sample Size3017
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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