A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7748646



Internal ID13608484
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 StatusS
Merged Variantsesv3305475
Supporting Variants
SamplesNA18537
Known GenesETS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7748646
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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