A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890662



Internal ID19184746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80059648..80077980hg38UCSC Ensembl
Outerchr5:80059648..80077980hg38UCSC Ensembl
Innerchr5:79355471..79373803hg19UCSC Ensembl
Outerchr5:79355471..79373803hg19UCSC Ensembl
Innerchr5:79391227..79409559hg18UCSC Ensembl
Outerchr5:79391227..79409559hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg3818333
hg1918333
hg1818333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799707
Samples
Known GenesTHBS4
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890662
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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