A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13153230



Internal ID390203
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:28486449..28487527hg38UCSC Ensembl
Innerchr8:28486536..28487375hg38UCSC Ensembl
Outerchr8:28486222..28487754hg38UCSC Ensembl
chr8:28343966..28345044hg19UCSC Ensembl
Innerchr8:28344053..28344892hg19UCSC Ensembl
Outerchr8:28343739..28345271hg19UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg381079
hg191079
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616739
Supporting Variants
SamplesHG00114
Known GenesFBXO16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13153230
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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