A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3600533



Internal ID6987575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:53726161..53737177hg38UCSC Ensembl
chr4:54592328..54603344hg19UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg3811017
hg1911017
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11438325, essv11438323, essv11438324
SamplesNA11995, NA20771, HG02104
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3600533
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer