A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302584



Internal ID15149531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124755189..124755274hg38UCSC Ensembl
Innerchr8:124755231..124755231hg38UCSC Ensembl
Outerchr8:124755089..124755374hg38UCSC Ensembl
chr8:125767431..125767516hg19UCSC Ensembl
Innerchr8:125767473..125767473hg19UCSC Ensembl
Outerchr8:125767331..125767616hg19UCSC Ensembl
chr8:125836612..125836697hg18UCSC Ensembl
Innerchr8:125836654..125836654hg18UCSC Ensembl
Outerchr8:125836512..125836797hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3886
hg1986
hg1886
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233e59
Supporting Variantsessv7731242, essv7731126, essv7731386, essv7730836, essv7731647
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302584
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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