A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13218306



Internal ID3024540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:68497113..68504604hg38UCSC Ensembl
Innerchr8:68497163..68504554hg38UCSC Ensembl
Outerchr8:68497045..68504672hg38UCSC Ensembl
chr8:69409348..69416839hg19UCSC Ensembl
Innerchr8:69409398..69416789hg19UCSC Ensembl
Outerchr8:69409280..69416907hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg387492
hg197492
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617526
Supporting Variants
SamplesHG02660
Known GenesC8orf34
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13218306
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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