A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114571



Internal ID4768949
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635606
Supporting Variants
SamplesNA11840
Known GenesPPP1R13B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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