A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309345



Internal ID14809609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:78802099..78802100hg38UCSC Ensembl
Innerchr5:78802082..78802117hg38UCSC Ensembl
Outerchr5:78802081..78802118hg38UCSC Ensembl
chr5:78097922..78097923hg19UCSC Ensembl
Innerchr5:78097905..78097940hg19UCSC Ensembl
Outerchr5:78097904..78097941hg19UCSC Ensembl
chr5:78133678..78133679hg18UCSC Ensembl
Innerchr5:78133696..78133661hg18UCSC Ensembl
Outerchr5:78133660..78133697hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38305
hg19305
hg18305
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7842257, essv7842369, essv7842991
SamplesNA19238, NA19239, NA19240
Known GenesARSB
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309345
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer