A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688184



Internal ID15010159
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:121185233..121186231hg38UCSC Ensembl
Innerchr11:121185232..121186232hg38UCSC Ensembl
Outerchr11:121184233..121187231hg38UCSC Ensembl
chr11:121055942..121056940hg19UCSC Ensembl
Innerchr11:121055941..121056941hg19UCSC Ensembl
Outerchr11:121054942..121057940hg19UCSC Ensembl
chr11:120561152..120562150hg18UCSC Ensembl
Innerchr11:120562151..120561151hg18UCSC Ensembl
Outerchr11:120560152..120563150hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3400342
Supporting Variants
SamplesNA19238
Known GenesTECTA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688184
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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