A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606716



Internal ID6993651
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:127914253..127929176hg38UCSC Ensembl
chr5:127249945..127264868hg19UCSC Ensembl
Cytoband5q23.2
Allele length
AssemblyAllele length
hg3814924
hg1914924
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12057770
SamplesHG02224
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606716
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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