A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7791391



Internal ID14853897
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:68895216..68895217hg38UCSC Ensembl
Innerchr5:68895199..68895234hg38UCSC Ensembl
Outerchr5:68895198..68895235hg38UCSC Ensembl
chr5:68191043..68191044hg19UCSC Ensembl
Innerchr5:68191026..68191061hg19UCSC Ensembl
Outerchr5:68191025..68191062hg19UCSC Ensembl
chr5:68226799..68226800hg18UCSC Ensembl
Innerchr5:68226817..68226782hg18UCSC Ensembl
Outerchr5:68226781..68226818hg18UCSC Ensembl
Cytoband5q13.1
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3305706
Supporting Variants
SamplesNA19108
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7791391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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