A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309621



Internal ID15156572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:163119034..163119035hg38UCSC Ensembl
Innerchr1:163118980..163119089hg38UCSC Ensembl
Outerchr1:163118979..163119090hg38UCSC Ensembl
chr1:163088824..163088825hg19UCSC Ensembl
Innerchr1:163088770..163088879hg19UCSC Ensembl
Outerchr1:163088769..163088880hg19UCSC Ensembl
chr1:161355448..161355449hg18UCSC Ensembl
Innerchr1:161355503..161355394hg18UCSC Ensembl
Outerchr1:161355393..161355504hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837070, essv7837381
SamplesNA19239, NA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309621
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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