A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7842613



Internal ID14662150
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 StatusS
Merged Variantsesv3309085
Supporting Variants
SamplesNA19238
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7842613
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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