A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3418794



Internal ID15265752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:180587005..180587029hg38UCSC Ensembl
Innerchr1:180587007..180587027hg38UCSC Ensembl
Outerchr1:180587003..180587031hg38UCSC Ensembl
chr1:180556141..180556165hg19UCSC Ensembl
Innerchr1:180556143..180556163hg19UCSC Ensembl
Outerchr1:180556139..180556167hg19UCSC Ensembl
chr1:178822764..178822788hg18UCSC Ensembl
Innerchr1:178822766..178822786hg18UCSC Ensembl
Outerchr1:178822762..178822790hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863781
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3418794
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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