A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634579



Internal ID7021382
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15020466, essv15020467, essv15020468
SamplesHG03693, HG02073, HG01600
Known GenesLINC00520, RPL13AP3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634579
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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