A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15046061



Internal ID5047877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:66933301..66939862hg38UCSC Ensembl
chr14:67400018..67406579hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg386562
hg196562
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634794
Supporting Variants
SamplesNA18643
Known GenesGPHN
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15046061
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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