A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8899462



Internal ID13306980
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:75927281..75927314hg38UCSC Ensembl
Innerchr1:75927286..75927309hg38UCSC Ensembl
Outerchr1:75927253..75927342hg38UCSC Ensembl
chr1:76392966..76392999hg19UCSC Ensembl
Innerchr1:76392971..76392994hg19UCSC Ensembl
Outerchr1:76392938..76393027hg19UCSC Ensembl
chr1:76165554..76165587hg18UCSC Ensembl
Innerchr1:76165582..76165559hg18UCSC Ensembl
Outerchr1:76165526..76165615hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38284
hg19284
hg18284
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401353
Supporting Variants
SamplesNA12004
Known GenesASB17
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8899462
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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