A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11955769



Internal ID3068260
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:80606303..80608811hg38UCSC Ensembl
Innerchr5:80606303..80608811hg38UCSC Ensembl
Outerchr5:80605938..80609089hg38UCSC Ensembl
chr5:79902122..79904630hg19UCSC Ensembl
Innerchr5:79902122..79904630hg19UCSC Ensembl
Outerchr5:79901757..79904908hg19UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg382509
hg192509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3605579
Supporting Variants
SamplesHG02694
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11955769
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