A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603721



Internal ID6990752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40419..176322hg38UCSC Ensembl
chr5:40417..176437hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38135904
hg19136021
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11765098, essv11765099, essv11765097
SamplesHG01525, NA12760, HG03730
Known GenesPLEKHG4B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603721
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