A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238922



Internal ID3637761
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80125315..80131234hg38UCSC Ensembl
Innerchr8:80125332..80131218hg38UCSC Ensembl
Outerchr8:80125299..80131251hg38UCSC Ensembl
chr8:81037550..81043469hg19UCSC Ensembl
Innerchr8:81037567..81043453hg19UCSC Ensembl
Outerchr8:81037534..81043486hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg385920
hg195920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617771
Supporting Variants
SamplesHG03235
Known GenesTPD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238922
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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