A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7754704



Internal ID14028826
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 StatusS
Merged Variantsesv3306072
Supporting Variants
SamplesNA18861
Known GenesPDE4B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7754704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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