A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616739



Internal ID7003625
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13153244, essv13153230, essv13153241, essv13153243, essv13153232, essv13153236, essv13153240, essv13153239, essv13153234, essv13153237, essv13153229, essv13153242, essv13153231, essv13153238, essv13153233, essv13153235
SamplesHG00114, NA12842, NA12399, HG01341, HG03765, HG01492, HG01510, NA12005, HG00365, HG02334, HG01095, HG02604, HG01705, HG00111, NA20582, NA11892
Known GenesFBXO16
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616739
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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