A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13219169



Internal ID5277362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:69069062..69073636hg38UCSC Ensembl
Innerchr8:69069062..69073636hg38UCSC Ensembl
Outerchr8:69068562..69074136hg38UCSC Ensembl
chr8:69981297..69985871hg19UCSC Ensembl
Innerchr8:69981297..69985871hg19UCSC Ensembl
Outerchr8:69980797..69986371hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg384575
hg194575
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617538
Supporting Variants
SamplesNA18645
Known GenesLOC100505718
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13219169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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