A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627779



Internal ID6667926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113688847..113692129hg38UCSC Ensembl
Innerchr11:113688997..113691979hg38UCSC Ensembl
Outerchr11:113688697..113692279hg38UCSC Ensembl
chr11:113559569..113562851hg19UCSC Ensembl
Innerchr11:113559719..113562701hg19UCSC Ensembl
Outerchr11:113559419..113563001hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383283
hg193283
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14288022, essv14288021
SamplesHG03687, HG00244
Known GenesTMPRSS5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627779
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer