A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14934634



Internal ID4936450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:22448999..22540247hg38UCSC Ensembl
Innerchr14:22448999..22540247hg38UCSC Ensembl
Outerchr14:22448909..22540449hg38UCSC Ensembl
chr14:22917991..23009190hg19UCSC Ensembl
Innerchr14:22917991..23009190hg19UCSC Ensembl
Outerchr14:22917901..23009392hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3891249
hg1991200
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633752
Supporting Variants
SamplesHG03478
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14934634
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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