A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13099243



Internal ID5045884
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9933927..9946127hg38UCSC Ensembl
Innerchr8:9933934..9946120hg38UCSC Ensembl
Outerchr8:9933920..9946134hg38UCSC Ensembl
chr8:9791437..9803637hg19UCSC Ensembl
Innerchr8:9791444..9803630hg19UCSC Ensembl
Outerchr8:9791430..9803644hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3812201
hg1912201
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616207
Supporting Variants
SamplesNA18530
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13099243
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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