A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3635606



Internal ID7022405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:103799352..103807677hg38UCSC Ensembl
Innerchr14:103799402..103807627hg38UCSC Ensembl
Outerchr14:103799293..103807736hg38UCSC Ensembl
chr14:104265689..104274014hg19UCSC Ensembl
Innerchr14:104265739..104273964hg19UCSC Ensembl
Outerchr14:104265630..104274073hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg388326
hg198326
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15114571
SamplesNA11840
Known GenesPPP1R13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3635606
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