A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318169



Internal ID4319985
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133150675..133155158hg38UCSC Ensembl
Innerchr11:133150677..133155156hg38UCSC Ensembl
Outerchr11:133150673..133155160hg38UCSC Ensembl
chr11:133020570..133025053hg19UCSC Ensembl
Innerchr11:133020572..133025051hg19UCSC Ensembl
Outerchr11:133020568..133025055hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg384484
hg194484
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628143
Supporting Variants
SamplesNA19310
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318169
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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