A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3619094



Internal ID7005974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143003065..143012222hg38UCSC Ensembl
Innerchr8:143003096..143012191hg38UCSC Ensembl
Outerchr8:143003034..143012253hg38UCSC Ensembl
chr8:144084482..144093639hg19UCSC Ensembl
Innerchr8:144084513..144093608hg19UCSC Ensembl
Outerchr8:144084451..144093670hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg389158
hg199158
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13364436
SamplesNA12144
Known GenesLOC100133669
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3619094
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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