A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13238900



Internal ID3240716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:80034764..80036567hg38UCSC Ensembl
Innerchr8:80034764..80036567hg38UCSC Ensembl
Outerchr8:80034687..80036652hg38UCSC Ensembl
chr8:80946999..80948802hg19UCSC Ensembl
Innerchr8:80946999..80948802hg19UCSC Ensembl
Outerchr8:80946922..80948887hg19UCSC Ensembl
Cytoband8q21.13
Allele length
AssemblyAllele length
hg381804
hg191804
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617769
Supporting Variants
SamplesHG03888
Known GenesTPD52
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13238900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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