A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8915480



Internal ID13839871
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129231273..129231357hg38UCSC Ensembl
Innerchr3:129231254..129231374hg38UCSC Ensembl
Outerchr3:129231170..129231460hg38UCSC Ensembl
chr3:128950116..128950200hg19UCSC Ensembl
Innerchr3:128950097..128950217hg19UCSC Ensembl
Outerchr3:128950013..128950303hg19UCSC Ensembl
chr3:130432806..130432890hg18UCSC Ensembl
Innerchr3:130432907..130432787hg18UCSC Ensembl
Outerchr3:130432703..130432993hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38127
hg19127
hg18127
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3324040
Supporting Variants
SamplesNA18508
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8915480
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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