A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3447529



Internal ID14947792
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:99220797..99222895hg38UCSC Ensembl
Innerchr13:99221797..99221895hg38UCSC Ensembl
Outerchr13:99219797..99223895hg38UCSC Ensembl
chr13:99873051..99875149hg19UCSC Ensembl
Innerchr13:99874051..99874149hg19UCSC Ensembl
Outerchr13:99872051..99876149hg19UCSC Ensembl
chr13:98671052..98673150hg18UCSC Ensembl
Innerchr13:98672052..98672150hg18UCSC Ensembl
Outerchr13:98670052..98674150hg18UCSC Ensembl
Cytoband13q32.3
Allele length
AssemblyAllele length
hg382099
hg192099
hg182099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8689011
SamplesNA19239
Known GenesMIR548AN, UBAC2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3447529
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