A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13194954



Internal ID3021147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48947793..48994472hg38UCSC Ensembl
Innerchr8:48947943..48994322hg38UCSC Ensembl
Outerchr8:48947643..48994622hg38UCSC Ensembl
chr8:49860352..49907031hg19UCSC Ensembl
Innerchr8:49860502..49906881hg19UCSC Ensembl
Outerchr8:49860202..49907181hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg3846680
hg1946680
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617129
Supporting Variants
SamplesHG02658
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13194954
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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