A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13061788



Internal ID3063604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1735209..1816717hg38UCSC Ensembl
Innerchr8:1735209..1816717hg38UCSC Ensembl
Outerchr8:1734709..1817217hg38UCSC Ensembl
chr8:1683375..1764883hg19UCSC Ensembl
Innerchr8:1683375..1764883hg19UCSC Ensembl
Outerchr8:1682875..1765383hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg3881509
hg1981509
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3615846
Supporting Variants
SamplesHG01054
Known GenesCLN8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13061788
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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