A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688204



Internal ID14663499
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:131864948..131866246hg38UCSC Ensembl
Innerchr11:131865246..131865948hg38UCSC Ensembl
Outerchr11:131863948..131867246hg38UCSC Ensembl
chr11:131734842..131736140hg19UCSC Ensembl
Innerchr11:131735140..131735842hg19UCSC Ensembl
Outerchr11:131733842..131737140hg19UCSC Ensembl
chr11:131240052..131241350hg18UCSC Ensembl
Innerchr11:131241052..131240350hg18UCSC Ensembl
Outerchr11:131239052..131242350hg18UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3332815
Supporting Variants
SamplesNA19238
Known GenesNTM
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688204
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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