A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3606076



Internal ID6993012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:103504333..103545676hg38UCSC Ensembl
chr5:102840034..102881377hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg3841344
hg1941344
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12002390
SamplesNA19025
Known GenesLOC102467212
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3606076
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