A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842219



Internal ID15084073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127071222..127071223hg38UCSC Ensembl
Innerchr11:127071205..127071240hg38UCSC Ensembl
Outerchr11:127071204..127071241hg38UCSC Ensembl
chr11:126941117..126941118hg19UCSC Ensembl
Innerchr11:126941100..126941135hg19UCSC Ensembl
Outerchr11:126941099..126941136hg19UCSC Ensembl
chr11:126446327..126446328hg18UCSC Ensembl
Innerchr11:126446345..126446310hg18UCSC Ensembl
Outerchr11:126446309..126446346hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3309143
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842219
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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