A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307331



Internal ID14807593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:39638375..39638376hg38UCSC Ensembl
Innerchr8:39638340..39638411hg38UCSC Ensembl
Outerchr8:39638339..39638412hg38UCSC Ensembl
chr8:39495894..39495895hg19UCSC Ensembl
Innerchr8:39495859..39495930hg19UCSC Ensembl
Outerchr8:39495858..39495931hg19UCSC Ensembl
chr8:39615051..39615052hg18UCSC Ensembl
Innerchr8:39615087..39615016hg18UCSC Ensembl
Outerchr8:39615015..39615088hg18UCSC Ensembl
Cytoband8p11.22
Allele length
AssemblyAllele length
hg38204
hg19204
hg18204
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7749531, essv7763184, essv7759183, essv7746919, essv7744614, essv7745394, essv7759857
SamplesNA19093, NA19147, NA18508, NA19172, NA18498, NA19138, NA18907
Known GenesADAM18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307331
Frequency
Sample Size185
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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