A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7762213



Internal ID13747707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:185593052..185593053hg38UCSC Ensembl
Innerchr1:185593013..185593092hg38UCSC Ensembl
Outerchr1:185593012..185593093hg38UCSC Ensembl
chr1:185562184..185562185hg19UCSC Ensembl
Innerchr1:185562145..185562224hg19UCSC Ensembl
Outerchr1:185562144..185562225hg19UCSC Ensembl
chr1:183828807..183828808hg18UCSC Ensembl
Innerchr1:183828847..183828768hg18UCSC Ensembl
Outerchr1:183828767..183828848hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38217
hg19217
hg18217
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306426
Supporting Variants
SamplesNA18489
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7762213
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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