A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306072



Internal ID14806334
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:66045700..66045701hg38UCSC Ensembl
Innerchr1:66045650..66045751hg38UCSC Ensembl
Outerchr1:66045649..66045752hg38UCSC Ensembl
chr1:66511383..66511384hg19UCSC Ensembl
Innerchr1:66511333..66511434hg19UCSC Ensembl
Outerchr1:66511332..66511435hg19UCSC Ensembl
chr1:66283971..66283972hg18UCSC Ensembl
Innerchr1:66284022..66283921hg18UCSC Ensembl
Outerchr1:66283920..66284023hg18UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7740626, essv7754704
SamplesNA18861, NA18504
Known GenesPDE4B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306072
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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