A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13192067



Internal ID426330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:46856453..46858215hg38UCSC Ensembl
Innerchr8:46856454..46858215hg38UCSC Ensembl
Outerchr8:46856453..46858216hg38UCSC Ensembl
chr8:47768075..47769837hg19UCSC Ensembl
Innerchr8:47768076..47769837hg19UCSC Ensembl
Outerchr8:47768075..47769838hg19UCSC Ensembl
Cytoband8q11.1
Allele length
AssemblyAllele length
hg381763
hg191763
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617084
Supporting Variants
SamplesHG00129
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13192067
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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