A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3450829



Internal ID15297776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10991308..10993906hg38UCSC Ensembl
Innerchr1:10992308..10992906hg38UCSC Ensembl
Outerchr1:10990308..10994906hg38UCSC Ensembl
chr1:11051365..11053963hg19UCSC Ensembl
Innerchr1:11052365..11052963hg19UCSC Ensembl
Outerchr1:11050365..11054963hg19UCSC Ensembl
chr1:10973952..10976550hg18UCSC Ensembl
Innerchr1:10974952..10975550hg18UCSC Ensembl
Outerchr1:10972952..10977550hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg382599
hg192599
hg182599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8691745
SamplesNA12878
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3450829
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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