A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136292



Internal ID5435750
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24173294..24174775hg38UCSC Ensembl
Innerchr8:24173308..24174762hg38UCSC Ensembl
Outerchr8:24173281..24174789hg38UCSC Ensembl
chr8:24030807..24032288hg19UCSC Ensembl
Innerchr8:24030821..24032275hg19UCSC Ensembl
Outerchr8:24030794..24032302hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg381482
hg191482
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616645
Supporting Variants
SamplesNA18959
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136292
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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