A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14928193



Internal ID4930009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21452798..21453997hg38UCSC Ensembl
Innerchr14:21452820..21453975hg38UCSC Ensembl
Outerchr14:21452776..21454019hg38UCSC Ensembl
chr14:21920957..21922156hg19UCSC Ensembl
Innerchr14:21920979..21922134hg19UCSC Ensembl
Outerchr14:21920935..21922178hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633715
Supporting Variants
SamplesHG02541
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14928193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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