A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153550



Internal ID5362235
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:29592438..29593826hg38UCSC Ensembl
Innerchr8:29592438..29593826hg38UCSC Ensembl
Outerchr8:29592297..29593989hg38UCSC Ensembl
chr8:29449954..29451342hg19UCSC Ensembl
Innerchr8:29449954..29451342hg19UCSC Ensembl
Outerchr8:29449813..29451505hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg381389
hg191389
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616768
Supporting Variants
SamplesNA18909
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153550
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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