A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3392482



Internal ID15239447
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:48393006..48393025hg38UCSC Ensembl
Innerchr8:48393002..48393029hg38UCSC Ensembl
Outerchr8:48392983..48393048hg38UCSC Ensembl
chr8:49305566..49305585hg19UCSC Ensembl
Innerchr8:49305562..49305589hg19UCSC Ensembl
Outerchr8:49305543..49305608hg19UCSC Ensembl
chr8:49468119..49468138hg18UCSC Ensembl
Innerchr8:49468142..49468115hg18UCSC Ensembl
Outerchr8:49468096..49468161hg18UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9638858
SamplesNA12814
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3392482
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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