A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13216299



Internal ID4011028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67442418..67443337hg38UCSC Ensembl
Innerchr8:67442432..67443324hg38UCSC Ensembl
Outerchr8:67442405..67443351hg38UCSC Ensembl
chr8:68354653..68355572hg19UCSC Ensembl
Innerchr8:68354667..68355559hg19UCSC Ensembl
Outerchr8:68354640..68355586hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg38920
hg19920
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617503
Supporting Variants
SamplesHG03663
Known GenesCPA6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13216299
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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