A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287944



Internal ID4915932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:112678992..112682827hg38UCSC Ensembl
Innerchr11:112679042..112682777hg38UCSC Ensembl
Outerchr11:112678923..112682896hg38UCSC Ensembl
chr11:112549715..112553550hg19UCSC Ensembl
Innerchr11:112549765..112553500hg19UCSC Ensembl
Outerchr11:112549646..112553619hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg383836
hg193836
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627763
Supporting Variants
SamplesNA12750
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287944
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