A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13309002



Internal ID6159968
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:123005149..123006750hg38UCSC Ensembl
Innerchr8:123005149..123006750hg38UCSC Ensembl
Outerchr8:123004960..123006958hg38UCSC Ensembl
chr8:124017389..124018990hg19UCSC Ensembl
Innerchr8:124017389..124018990hg19UCSC Ensembl
Outerchr8:124017200..124019198hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381602
hg191602
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618660
Supporting Variants
SamplesNA19701
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13309002
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