A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13195397



Internal ID6152607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:49307587..49308752hg38UCSC Ensembl
Innerchr8:49307588..49308752hg38UCSC Ensembl
Outerchr8:49307587..49308753hg38UCSC Ensembl
chr8:50220146..50221311hg19UCSC Ensembl
Innerchr8:50220147..50221311hg19UCSC Ensembl
Outerchr8:50220146..50221312hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3617140
Supporting Variants
SamplesNA19684
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13195397
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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