A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136356



Internal ID3292354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24231752..24237968hg38UCSC Ensembl
Innerchr8:24231752..24237968hg38UCSC Ensembl
Outerchr8:24231627..24238101hg38UCSC Ensembl
chr8:24089265..24095481hg19UCSC Ensembl
Innerchr8:24089265..24095481hg19UCSC Ensembl
Outerchr8:24089140..24095614hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg386217
hg196217
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616647
Supporting Variants
SamplesHG02923
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136356
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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