A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13322322



Internal ID3912239
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:127690617..127691384hg38UCSC Ensembl
Innerchr8:127690617..127691384hg38UCSC Ensembl
Outerchr8:127690327..127691747hg38UCSC Ensembl
chr8:128702862..128703629hg19UCSC Ensembl
Innerchr8:128702862..128703629hg19UCSC Ensembl
Outerchr8:128702572..128703992hg19UCSC Ensembl
Cytoband8q24.21
Allele length
AssemblyAllele length
hg38768
hg19768
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618778
Supporting Variants
SamplesHG03565
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13322322
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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