A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450741



Internal ID15297689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:79681317..79681336hg38UCSC Ensembl
Innerchr9:79681313..79681340hg38UCSC Ensembl
Outerchr9:79681294..79681359hg38UCSC Ensembl
chr9:82296232..82296251hg19UCSC Ensembl
Innerchr9:82296228..82296255hg19UCSC Ensembl
Outerchr9:82296209..82296274hg19UCSC Ensembl
chr9:81486052..81486071hg18UCSC Ensembl
Innerchr9:81486075..81486048hg18UCSC Ensembl
Outerchr9:81486029..81486094hg18UCSC Ensembl
Cytoband9q21.31
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9644047
SamplesNA12812
Known GenesTLE4
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450741
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