A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13099240



Internal ID2286863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9886203..9892692hg38UCSC Ensembl
Innerchr8:9886220..9892675hg38UCSC Ensembl
Outerchr8:9886186..9892709hg38UCSC Ensembl
chr8:9743713..9750202hg19UCSC Ensembl
Innerchr8:9743730..9750185hg19UCSC Ensembl
Outerchr8:9743696..9750219hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg386490
hg196490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616206
Supporting Variants
SamplesHG02047
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13099240
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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