A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634575



Internal ID7021378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:55179311..55207761hg38UCSC Ensembl
chr14:55646029..55674479hg19UCSC Ensembl
Cytoband14q22.3
Allele length
AssemblyAllele length
hg3828451
hg1928451
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15019203, essv15019200, essv15019201, essv15019202
SamplesHG04222, HG03862, NA20856, HG04080
Known GenesDLGAP5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634575
Frequency
Sample Size2504
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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