A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13182330



Internal ID3184146
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:42059429..42085578hg38UCSC Ensembl
Innerchr8:42059439..42085568hg38UCSC Ensembl
Outerchr8:42059419..42085588hg38UCSC Ensembl
chr8:41916947..41943096hg19UCSC Ensembl
Innerchr8:41916957..41943086hg19UCSC Ensembl
Outerchr8:41916937..41943106hg19UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg3826150
hg1926150
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616999
Supporting Variants
SamplesHG03363
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13182330
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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