A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13203534



Internal ID4688237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:54651796..54675092hg38UCSC Ensembl
Innerchr8:54651804..54675084hg38UCSC Ensembl
Outerchr8:54651788..54675100hg38UCSC Ensembl
chr8:55564356..55587652hg19UCSC Ensembl
Innerchr8:55564364..55587644hg19UCSC Ensembl
Outerchr8:55564348..55587660hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3823297
hg1923297
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617259
Supporting Variants
SamplesHG04211
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13203534
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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