A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7740809



Internal ID13577427
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:103177809..103177810hg38UCSC Ensembl
Innerchr11:103177703..103177916hg38UCSC Ensembl
Outerchr11:103177702..103177917hg38UCSC Ensembl
chr11:103048538..103048539hg19UCSC Ensembl
Innerchr11:103048432..103048645hg19UCSC Ensembl
Outerchr11:103048431..103048646hg19UCSC Ensembl
chr11:102553748..102553749hg18UCSC Ensembl
Innerchr11:102553855..102553642hg18UCSC Ensembl
Outerchr11:102553641..102553856hg18UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38219
hg19219
hg18219
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306626
Supporting Variants
SamplesNA12763
Known GenesDYNC2H1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7740809
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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