A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15114700



Internal ID4722931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:104230962..104422836hg38UCSC Ensembl
chr14:104697299..104889173hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38191875
hg19191875
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635620
Supporting Variants
SamplesNA06984
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15114700
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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