A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3890720



Internal ID19185022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:116260423..116328360hg38UCSC Ensembl
Outerchr5:116260423..116328360hg38UCSC Ensembl
Innerchr5:115596120..115664057hg19UCSC Ensembl
Outerchr5:115596120..115664057hg19UCSC Ensembl
Innerchr5:115624019..115691956hg18UCSC Ensembl
Outerchr5:115624019..115691956hg18UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg3867938
hg1967938
hg1867938
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25799760
Samples
Known GenesCOMMD10
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3890720
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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