A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15003110



Internal ID6531498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46516940..46528583hg38UCSC Ensembl
chr14:46986143..46997786hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3811644
hg1911644
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634390
Supporting Variants
SamplesNA20581
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15003110
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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