A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8672811



Internal ID13674282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:85787389..85787439hg38UCSC Ensembl
Innerchr13:85787400..85787426hg38UCSC Ensembl
Outerchr13:85787350..85787476hg38UCSC Ensembl
chr13:86361524..86361574hg19UCSC Ensembl
Innerchr13:86361535..86361561hg19UCSC Ensembl
Outerchr13:86361485..86361611hg19UCSC Ensembl
chr13:85259525..85259575hg18UCSC Ensembl
Innerchr13:85259562..85259536hg18UCSC Ensembl
Outerchr13:85259486..85259612hg18UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3446431
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8672811
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