A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607760



Internal ID6994691
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:179988015..179998629hg38UCSC Ensembl
Innerchr5:179988165..179998479hg38UCSC Ensembl
Outerchr5:179987865..179998779hg38UCSC Ensembl
chr5:179415015..179425629hg19UCSC Ensembl
Innerchr5:179415165..179425479hg19UCSC Ensembl
Outerchr5:179414865..179425779hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3810615
hg1910615
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152204
SamplesHG00663
Known GenesRNF130
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607760
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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