A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3352899



Internal ID14853163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19531933..19531952hg38UCSC Ensembl
Innerchr8:19531929..19531956hg38UCSC Ensembl
Outerchr8:19531910..19531975hg38UCSC Ensembl
chr8:19389444..19389463hg19UCSC Ensembl
Innerchr8:19389440..19389467hg19UCSC Ensembl
Outerchr8:19389421..19389486hg19UCSC Ensembl
chr8:19433724..19433743hg18UCSC Ensembl
Innerchr8:19433747..19433720hg18UCSC Ensembl
Outerchr8:19433701..19433766hg18UCSC Ensembl
Cytoband8p21.3
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 Variantsessv9638025
SamplesNA12234
Known GenesCSGALNACT1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3352899
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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