A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302798



Internal ID15149746
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:124755195..124755286hg38UCSC Ensembl
Innerchr8:124755240..124755240hg38UCSC Ensembl
Outerchr8:124755095..124755386hg38UCSC Ensembl
chr8:125767437..125767528hg19UCSC Ensembl
Innerchr8:125767482..125767482hg19UCSC Ensembl
Outerchr8:125767337..125767628hg19UCSC Ensembl
chr8:125836618..125836709hg18UCSC Ensembl
Innerchr8:125836663..125836663hg18UCSC Ensembl
Outerchr8:125836518..125836809hg18UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4233e59
Supporting Variantsessv7733395, essv7736815, essv7738499, essv7737482, essv7735878, essv7734639, essv7733102, essv7733997, essv7738353, essv7736927, essv7731878, essv7734915, essv7737096, essv7731985, essv7737446, essv7739188, essv7735206
SamplesNA18508, NA10851, NA18603, NA18870, NA12891, NA11992, NA19138, NA18949, NA19137, NA19238, NA19239, NA12878, NA18570, NA11881, NA19240, NA18501, NA18965
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302798
Frequency
Sample Size185
Observed Gain17
Observed Loss0
Observed Complex0
Frequencyn/a


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