A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8670515



Internal ID15097548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:73999073..73999150hg38UCSC Ensembl
Innerchr11:73999080..73999143hg38UCSC Ensembl
Outerchr11:73999066..73999157hg38UCSC Ensembl
chr11:73710118..73710195hg19UCSC Ensembl
Innerchr11:73710125..73710188hg19UCSC Ensembl
Outerchr11:73710111..73710202hg19UCSC Ensembl
chr11:73387766..73387843hg18UCSC Ensembl
Innerchr11:73387773..73387836hg18UCSC Ensembl
Outerchr11:73387759..73387850hg18UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3878
hg1978
hg1878
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3326270
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8670515
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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