A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14924340



Internal ID5982759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20517668..20519353hg38UCSC Ensembl
Innerchr14:20517690..20519331hg38UCSC Ensembl
Outerchr14:20517646..20519375hg38UCSC Ensembl
chr14:20985827..20987512hg19UCSC Ensembl
Innerchr14:20985849..20987490hg19UCSC Ensembl
Outerchr14:20985805..20987534hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381686
hg191686
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633685
Supporting Variants
SamplesNA19390
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14924340
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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