A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13093709



Internal ID2571306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8630893..8633448hg38UCSC Ensembl
Innerchr8:8630897..8633445hg38UCSC Ensembl
Outerchr8:8630890..8633452hg38UCSC Ensembl
chr8:8488403..8490958hg19UCSC Ensembl
Innerchr8:8488407..8490955hg19UCSC Ensembl
Outerchr8:8488400..8490962hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg382556
hg192556
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616143
Supporting Variants
SamplesHG02281
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13093709
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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