A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7745394



Internal ID14570441
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 StatusS
Merged Variantsesv3307331
Supporting Variants
SamplesNA19147
Known GenesADAM18
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7745394
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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