A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306206



Internal ID15153154
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:55991590..55991591hg38UCSC Ensembl
Innerchr5:55991561..55991620hg38UCSC Ensembl
Outerchr5:55991560..55991621hg38UCSC Ensembl
chr5:55287418..55287419hg19UCSC Ensembl
Innerchr5:55287389..55287448hg19UCSC Ensembl
Outerchr5:55287388..55287449hg19UCSC Ensembl
chr5:55323175..55323176hg18UCSC Ensembl
Innerchr5:55323205..55323146hg18UCSC Ensembl
Outerchr5:55323145..55323206hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3894
hg1994
hg1894
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7745461, essv7754607, essv7742921, essv7741089, essv7752671, essv7761706, essv7757772, essv7753389, essv7758308
SamplesNA12717, NA18861, NA12287, NA19238, NA19099, NA19147, NA18517, NA18505, NA18522
Known GenesIL6ST
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306206
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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