A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306356



Internal ID15153304
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:16470216..16470217hg38UCSC Ensembl
Innerchr5:16470185..16470248hg38UCSC Ensembl
Outerchr5:16470184..16470249hg38UCSC Ensembl
chr5:16470325..16470326hg19UCSC Ensembl
Innerchr5:16470294..16470357hg19UCSC Ensembl
Outerchr5:16470293..16470358hg19UCSC Ensembl
chr5:16523325..16523326hg18UCSC Ensembl
Innerchr5:16523357..16523294hg18UCSC Ensembl
Outerchr5:16523293..16523358hg18UCSC Ensembl
Cytoband5p15.1
Allele length
AssemblyAllele length
hg38240
hg19240
hg18240
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7752188, essv7760944, essv7740834, essv7757139, essv7752614, essv7754368
SamplesNA11920, NA12003, NA07037, NA12763, NA06986, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306356
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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