A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15020468



Internal ID4052014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55696785..55798941hg38UCSC Ensembl
chr14:56163503..56265659hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg38102157
hg19102157
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634579
Supporting Variants
SamplesHG03693
Known GenesLINC00520, RPL13AP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15020468
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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