A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303313



Internal ID14803575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:31423627..31423628hg38UCSC Ensembl
Innerchr18:31423605..31423650hg38UCSC Ensembl
Outerchr18:31423604..31423651hg38UCSC Ensembl
chr18:29003590..29003591hg19UCSC Ensembl
Innerchr18:29003568..29003613hg19UCSC Ensembl
Outerchr18:29003567..29003614hg19UCSC Ensembl
chr18:27257588..27257589hg18UCSC Ensembl
Innerchr18:27257611..27257566hg18UCSC Ensembl
Outerchr18:27257565..27257612hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg38184
hg19184
hg18184
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7767065, essv7766835, essv7769216, essv7767543, essv7768696, essv7768110, essv7763771, essv7765855, essv7769321, essv7765275, essv7768473, essv7763987
SamplesNA12045, NA18970, NA19238, NA12815, NA19239, NA12878, NA12872, NA12892, NA12043, NA11881, NA19240, NA19143
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303313
Frequency
Sample Size185
Observed Gain12
Observed Loss0
Observed Complex0
Frequencyn/a


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