A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619097



Internal ID7005977
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143106109..143129239hg38UCSC Ensembl
Innerchr8:143106609..143128739hg38UCSC Ensembl
Outerchr8:143105109..143130239hg38UCSC Ensembl
chr8:144187526..144210656hg19UCSC Ensembl
Innerchr8:144188026..144210156hg19UCSC Ensembl
Outerchr8:144186526..144211656hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg3823131
hg1923131
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13364503, essv13364504, essv13364508, essv13364497, essv13364505, essv13364500, essv13364498, essv13364502, essv13364501, essv13364507, essv13364509, essv13364506, essv13364499
SamplesHG02852, HG03485, HG03578, HG01124, HG03457, HG02757, HG01536, HG02881, HG02807, HG02667, HG02982, HG02768, HG03072
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619097
Frequency
Sample Size2504
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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