A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3358012



Internal ID15204991
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:220286506..220286506hg38UCSC Ensembl
Innerchr1:220286505..220286507hg38UCSC Ensembl
Outerchr1:220286446..220286556hg38UCSC Ensembl
chr1:220459848..220459848hg19UCSC Ensembl
Innerchr1:220459847..220459849hg19UCSC Ensembl
Outerchr1:220459788..220459898hg19UCSC Ensembl
chr1:218526471..218526471hg18UCSC Ensembl
Innerchr1:218526472..218526470hg18UCSC Ensembl
Outerchr1:218526411..218526521hg18UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8823671
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3358012
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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