A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11886776



Internal ID5192018
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43782923..43793591hg38UCSC Ensembl
Innerchr5:43782923..43793591hg38UCSC Ensembl
Outerchr5:43782423..43794091hg38UCSC Ensembl
chr5:43783025..43793693hg19UCSC Ensembl
Innerchr5:43783025..43793693hg19UCSC Ensembl
Outerchr5:43782525..43794193hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3810669
hg1910669
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3604911
Supporting Variants
SamplesNA18611
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11886776
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