A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3443809



Internal ID15290762
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:142989760..142990858hg38UCSC Ensembl
Innerchr8:142989858..142990760hg38UCSC Ensembl
Outerchr8:142988760..142991858hg38UCSC Ensembl
chr8:144071177..144072275hg19UCSC Ensembl
Innerchr8:144071275..144072177hg19UCSC Ensembl
Outerchr8:144070177..144073275hg19UCSC Ensembl
chr8:144142552..144143650hg18UCSC Ensembl
Innerchr8:144143552..144142650hg18UCSC Ensembl
Outerchr8:144141552..144144650hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg381099
hg191099
hg181099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8696235
SamplesNA19240
Known GenesLOC100133669
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3443809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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