A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7741573



Internal ID13791069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:43793880..43793881hg38UCSC Ensembl
Innerchr18:43793828..43793933hg38UCSC Ensembl
Outerchr18:43793827..43793934hg38UCSC Ensembl
chr18:41373845..41373846hg19UCSC Ensembl
Innerchr18:41373793..41373898hg19UCSC Ensembl
Outerchr18:41373792..41373899hg19UCSC Ensembl
chr18:39627843..39627844hg18UCSC Ensembl
Innerchr18:39627896..39627791hg18UCSC Ensembl
Outerchr18:39627790..39627897hg18UCSC Ensembl
Cytoband18q12.3
Allele length
AssemblyAllele length
hg38273
hg19273
hg18273
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306181
Supporting Variants
SamplesNA18502
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7741573
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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