A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740705



Internal ID13291396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:114300537..114300674hg38UCSC Ensembl
Innerchr11:114300587..114300624hg38UCSC Ensembl
Outerchr11:114300487..114300724hg38UCSC Ensembl
chr11:114171259..114171396hg19UCSC Ensembl
Innerchr11:114171309..114171346hg19UCSC Ensembl
Outerchr11:114171209..114171446hg19UCSC Ensembl
chr11:113676469..113676606hg18UCSC Ensembl
Innerchr11:113676519..113676556hg18UCSC Ensembl
Outerchr11:113676419..113676656hg18UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3360369
Supporting Variants
SamplesNA12878
Known GenesNNMT
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740705
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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