A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3390933



Internal ID14891214
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:117629516..117629516hg38UCSC Ensembl
Innerchr11:117629515..117629517hg38UCSC Ensembl
Outerchr11:117629456..117629566hg38UCSC Ensembl
chr11:117500231..117500231hg19UCSC Ensembl
Innerchr11:117500230..117500232hg19UCSC Ensembl
Outerchr11:117500171..117500281hg19UCSC Ensembl
chr11:117005441..117005441hg18UCSC Ensembl
Innerchr11:117005442..117005440hg18UCSC Ensembl
Outerchr11:117005381..117005491hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3861
hg1961
hg1861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8811434
SamplesNA12878
Known GenesDSCAML1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3390933
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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