A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3638672



Internal ID7025457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:54603938..54607136hg38UCSC Ensembl
chr16:54637850..54641048hg19UCSC Ensembl
Cytoband16q12.2
Allele length
AssemblyAllele length
hg383199
hg193199
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15480752, essv15480749, essv15480751, essv15480753, essv15480750, essv15480757, essv15480754, essv15480756, essv15480755, essv15480747, essv15480748
SamplesHG02285, HG03074, NA20589, HG01354, HG03951, NA18536, NA19375, HG02088, HG03703, HG01917, HG03646
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3638672
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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