A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13338796



Internal ID818858
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:134079238..134089755hg38UCSC Ensembl
Innerchr8:134079238..134089755hg38UCSC Ensembl
Outerchr8:134078738..134090255hg38UCSC Ensembl
chr8:135091481..135101998hg19UCSC Ensembl
Innerchr8:135091481..135101998hg19UCSC Ensembl
Outerchr8:135090981..135102498hg19UCSC Ensembl
Cytoband8q24.22
Allele length
AssemblyAllele length
hg3810518
hg1910518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618903
Supporting Variants
SamplesHG00406
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13338796
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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