A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305475



Internal ID14805737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128497925..128497926hg38UCSC Ensembl
Innerchr11:128497896..128497955hg38UCSC Ensembl
Outerchr11:128497895..128497956hg38UCSC Ensembl
chr11:128367820..128367821hg19UCSC Ensembl
Innerchr11:128367791..128367850hg19UCSC Ensembl
Outerchr11:128367790..128367851hg19UCSC Ensembl
chr11:127873030..127873031hg18UCSC Ensembl
Innerchr11:127873060..127873001hg18UCSC Ensembl
Outerchr11:127873000..127873061hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38165
hg19165
hg18165
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7760814, essv7757281, essv7762397, essv7756674, essv7761112, essv7745072, essv7742018, essv7748646, essv7751842, essv7749880, essv7757841
SamplesNA18550, NA18570, NA18545, NA18608, NA18542, NA18576, NA18592, NA07346, NA18537, NA18579, NA18577
Known GenesETS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305475
Frequency
Sample Size185
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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