A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309085



Internal ID14809348
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5411652..5411653hg38UCSC Ensembl
Innerchr18:5411635..5411670hg38UCSC Ensembl
Outerchr18:5411634..5411671hg38UCSC Ensembl
chr18:5411651..5411652hg19UCSC Ensembl
Innerchr18:5411634..5411669hg19UCSC Ensembl
Outerchr18:5411633..5411670hg19UCSC Ensembl
chr18:5401651..5401652hg18UCSC Ensembl
Innerchr18:5401669..5401634hg18UCSC Ensembl
Outerchr18:5401633..5401670hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38303
hg19303
hg18303
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842613, essv7842221
SamplesNA19238, NA19240
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309085
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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