A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15052469



Internal ID5054285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70054944..70058811hg38UCSC Ensembl
Innerchr14:70054946..70058809hg38UCSC Ensembl
Outerchr14:70054942..70058813hg38UCSC Ensembl
chr14:70521661..70525528hg19UCSC Ensembl
Innerchr14:70521663..70525526hg19UCSC Ensembl
Outerchr14:70521659..70525530hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383868
hg193868
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634850
Supporting Variants
SamplesHG04209
Known GenesSLC8A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15052469
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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