A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8701376



Internal ID13643141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:98215534..98215534hg38UCSC Ensembl
Innerchr1:98215533..98215535hg38UCSC Ensembl
Outerchr1:98215484..98215584hg38UCSC Ensembl
chr1:98681090..98681090hg19UCSC Ensembl
Innerchr1:98681089..98681091hg19UCSC Ensembl
Outerchr1:98681040..98681140hg19UCSC Ensembl
chr1:98453678..98453678hg18UCSC Ensembl
Innerchr1:98453679..98453677hg18UCSC Ensembl
Outerchr1:98453628..98453728hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3383672
Supporting Variants
SamplesNA12878
Known GenesLOC729987
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8701376
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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