A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13271022



Internal ID6227560
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102947397..102951806hg38UCSC Ensembl
Innerchr8:102947397..102951806hg38UCSC Ensembl
Outerchr8:102946897..102952306hg38UCSC Ensembl
chr8:103959625..103964034hg19UCSC Ensembl
Innerchr8:103959625..103964034hg19UCSC Ensembl
Outerchr8:103959125..103964534hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg384410
hg194410
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618241
Supporting Variants
SamplesNA19755
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13271022
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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