A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005307



Internal ID4884521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50358404..50360697hg38UCSC Ensembl
Innerchr14:50358404..50360697hg38UCSC Ensembl
Outerchr14:50358193..50360976hg38UCSC Ensembl
chr14:50825122..50827415hg19UCSC Ensembl
Innerchr14:50825122..50827415hg19UCSC Ensembl
Outerchr14:50824911..50827694hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg382294
hg192294
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634477
Supporting Variants
SamplesNA12399
Known GenesCDKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005307
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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