A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3444192



Internal ID15291145
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:12781867..12781880hg38UCSC Ensembl
Innerchr8:12781869..12781878hg38UCSC Ensembl
Outerchr8:12781865..12781882hg38UCSC Ensembl
chr8:12639376..12639389hg19UCSC Ensembl
Innerchr8:12639378..12639387hg19UCSC Ensembl
Outerchr8:12639374..12639391hg19UCSC Ensembl
chr8:12683747..12683760hg18UCSC Ensembl
Innerchr8:12683749..12683758hg18UCSC Ensembl
Outerchr8:12683745..12683762hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864812
SamplesNA12005
Known GenesLOC340357
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3444192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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