A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13092567



Internal ID808241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:8460074..8593056hg38UCSC Ensembl
Innerchr8:8460121..8593009hg38UCSC Ensembl
Outerchr8:8460027..8593103hg38UCSC Ensembl
chr8:8317584..8450566hg19UCSC Ensembl
Innerchr8:8317631..8450519hg19UCSC Ensembl
Outerchr8:8317537..8450613hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38132983
hg19132983
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616137
Supporting Variants
SamplesHG00383
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13092567
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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