A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634477



Internal ID7021280
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15005306, essv15005307, essv15005303, essv15005305, essv15005304
SamplesNA10851, NA12399, HG01699, HG00376, HG00336
Known GenesCDKL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634477
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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