A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11251106



Internal ID1252922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:180784621..180937225hg38UCSC Ensembl
chr3:180502409..180655013hg19UCSC Ensembl
Cytoband3q26.33
Allele length
AssemblyAllele length
hg38152605
hg19152605
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598875
Supporting Variants
SamplesHG04194
Known GenesFXR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11251106
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