A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7750653



Internal ID15123125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118003568..118003569hg38UCSC Ensembl
Innerchr11:118003531..118003606hg38UCSC Ensembl
Outerchr11:118003530..118003607hg38UCSC Ensembl
chr11:117874283..117874284hg19UCSC Ensembl
Innerchr11:117874246..117874321hg19UCSC Ensembl
Outerchr11:117874245..117874322hg19UCSC Ensembl
chr11:117379493..117379494hg18UCSC Ensembl
Innerchr11:117379531..117379456hg18UCSC Ensembl
Outerchr11:117379455..117379532hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38248
hg19248
hg18248
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307669
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7750653
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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