A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3378909



Internal ID14879180
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531160..144532158hg38UCSC Ensembl
Innerchr8:144531159..144532159hg38UCSC Ensembl
Outerchr8:144530160..144533158hg38UCSC Ensembl
chr8:145756544..145757542hg19UCSC Ensembl
Innerchr8:145756543..145757543hg19UCSC Ensembl
Outerchr8:145755544..145758542hg19UCSC Ensembl
chr8:145727352..145728350hg18UCSC Ensembl
Innerchr8:145728351..145727351hg18UCSC Ensembl
Outerchr8:145726352..145729350hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4271e59
Supporting Variantsessv8696250
SamplesNA19239
Known GenesARHGAP39
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3378909
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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