A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3407405



Internal ID14907681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:206828133..206828133hg38UCSC Ensembl
Innerchr1:206828132..206828134hg38UCSC Ensembl
Outerchr1:206828083..206828183hg38UCSC Ensembl
chr1:207001478..207001478hg19UCSC Ensembl
Innerchr1:207001477..207001479hg19UCSC Ensembl
Outerchr1:207001428..207001528hg19UCSC Ensembl
chr1:205068101..205068101hg18UCSC Ensembl
Innerchr1:205068102..205068100hg18UCSC Ensembl
Outerchr1:205068051..205068151hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701362
SamplesNA12878
Known GenesIL19
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3407405
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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