A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7734351



Internal ID13020437
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:9809171..9809178hg38UCSC Ensembl
Outerchr18:9808971..9809378hg38UCSC Ensembl
Innerchr18:9809168..9809175hg19UCSC Ensembl
Outerchr18:9808968..9809375hg19UCSC Ensembl
Innerchr18:9799168..9799175hg18UCSC Ensembl
Outerchr18:9798968..9799375hg18UCSC Ensembl
Cytoband18p11.22
Allele length
AssemblyAllele length
hg38408
hg19408
hg18408
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303026
Supporting Variants
SamplesNA07000
Known GenesRAB31
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7734351
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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