A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8954803



Internal ID15118828
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118003570..118003600hg38UCSC Ensembl
Innerchr11:118003577..118003591hg38UCSC Ensembl
Outerchr11:118003547..118003623hg38UCSC Ensembl
chr11:117874285..117874315hg19UCSC Ensembl
Innerchr11:117874292..117874306hg19UCSC Ensembl
Outerchr11:117874262..117874338hg19UCSC Ensembl
chr11:117379495..117379525hg18UCSC Ensembl
Innerchr11:117379516..117379502hg18UCSC Ensembl
Outerchr11:117379472..117379548hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38229
hg19229
hg18229
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3364960
Supporting Variants
SamplesNA19257
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8954803
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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