A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7745806



Internal ID14511685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129231181..129231182hg38UCSC Ensembl
Innerchr3:129231021..129231342hg38UCSC Ensembl
Outerchr3:129231020..129231343hg38UCSC Ensembl
chr3:128950024..128950025hg19UCSC Ensembl
Innerchr3:128949864..128950185hg19UCSC Ensembl
Outerchr3:128949863..128950186hg19UCSC Ensembl
chr3:130432714..130432715hg18UCSC Ensembl
Innerchr3:130432875..130432554hg18UCSC Ensembl
Outerchr3:130432553..130432876hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg3874
hg1974
hg1874
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307694
Supporting Variants
SamplesNA18945
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7745806
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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