A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14941696



Internal ID4943512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23953691..23970340hg38UCSC Ensembl
chr14:24422900..24439549hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3816650
hg1916650
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633790
Supporting Variants
SamplesHG01107
Known GenesDHRS4, DHRS4-AS1, DHRS4L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14941696
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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