A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3350680



Internal ID15197661
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110254623..110254623hg38UCSC Ensembl
Innerchr1:110254622..110254624hg38UCSC Ensembl
Outerchr1:110254563..110254673hg38UCSC Ensembl
chr1:110797245..110797245hg19UCSC Ensembl
Innerchr1:110797244..110797246hg19UCSC Ensembl
Outerchr1:110797185..110797295hg19UCSC Ensembl
chr1:110598768..110598768hg18UCSC Ensembl
Innerchr1:110598769..110598767hg18UCSC Ensembl
Outerchr1:110598708..110598818hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8822747
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3350680
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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