A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3602191



Internal ID6989225
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:129859450..129885287hg38UCSC Ensembl
chr4:130780605..130806442hg19UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg3825838
hg1925838
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11602924, essv11602918, essv11602917, essv11602926, essv11602937, essv11602925, essv11602919, essv11602938, essv11602922, essv11602935, essv11602932, essv11602939, essv11602927, essv11602915, essv11602928, essv11602920, essv11602923, essv11602916, essv11602933, essv11602934, essv11602931, essv11602921, essv11602914, essv11602930, essv11602929, essv11602936
SamplesNA20882, HG03593, HG04229, HG04202, HG04094, HG02600, HG02688, NA20846, HG03943, HG04042, HG03736, HG04070, NA20910, HG02793, HG04039, HG02775, NA21098, HG03823, HG03660, HG03951, HG04134, HG04099, HG02699, NA20886, HG03867, HG03886
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3602191
Frequency
Sample Size2504
Observed Gain26
Observed Loss0
Observed Complex0
Frequencyn/a


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