A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114750



Internal ID5116566
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104942355..104955280hg38UCSC Ensembl
chr14:105408692..105421617hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3812926
hg1912926
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635629
Supporting Variants
SamplesNA19093
Known GenesAHNAK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114750
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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