A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13136290



Internal ID569291
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:24092381..24106163hg38UCSC Ensembl
Innerchr8:24092381..24106163hg38UCSC Ensembl
Outerchr8:24092158..24106379hg38UCSC Ensembl
chr8:23949894..23963676hg19UCSC Ensembl
Innerchr8:23949894..23963676hg19UCSC Ensembl
Outerchr8:23949671..23963892hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3813783
hg1913783
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616644
Supporting Variants
SamplesHG00251
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13136290
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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