A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13165846



Internal ID4540529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:34886980..34892842hg38UCSC Ensembl
Innerchr8:34887030..34892792hg38UCSC Ensembl
Outerchr8:34886930..34892892hg38UCSC Ensembl
chr8:34744498..34750360hg19UCSC Ensembl
Innerchr8:34744548..34750310hg19UCSC Ensembl
Outerchr8:34744448..34750410hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg385863
hg195863
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616868
Supporting Variants
SamplesHG04035
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13165846
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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