A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13206213



Internal ID1600062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:58520974..58521481hg38UCSC Ensembl
Innerchr8:58520974..58521481hg38UCSC Ensembl
Outerchr8:58520818..58521614hg38UCSC Ensembl
chr8:59433533..59434040hg19UCSC Ensembl
Innerchr8:59433533..59434040hg19UCSC Ensembl
Outerchr8:59433377..59434173hg19UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg38508
hg19508
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617339
Supporting Variants
SamplesHG01488
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13206213
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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