A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13214375



Internal ID3637669
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:66246961..66249422hg38UCSC Ensembl
Innerchr8:66246992..66249392hg38UCSC Ensembl
Outerchr8:66246931..66249453hg38UCSC Ensembl
chr8:67159196..67161657hg19UCSC Ensembl
Innerchr8:67159227..67161627hg19UCSC Ensembl
Outerchr8:67159166..67161688hg19UCSC Ensembl
Cytoband8q13.1
Allele length
AssemblyAllele length
hg382462
hg192462
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617483
Supporting Variants
SamplesHG03235
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13214375
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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