A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3428703



Internal ID15275659
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:118259631..118259650hg38UCSC Ensembl
Innerchr8:118259627..118259654hg38UCSC Ensembl
Outerchr8:118259608..118259673hg38UCSC Ensembl
chr8:119271870..119271889hg19UCSC Ensembl
Innerchr8:119271866..119271893hg19UCSC Ensembl
Outerchr8:119271847..119271912hg19UCSC Ensembl
chr8:119341051..119341070hg18UCSC Ensembl
Innerchr8:119341074..119341047hg18UCSC Ensembl
Outerchr8:119341028..119341093hg18UCSC Ensembl
Cytoband8q24.12
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 Variantsessv9640924
SamplesNA12874
Known GenesSAMD12
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3428703
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer