A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293210



Internal ID4295026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118656448..118708205hg38UCSC Ensembl
chr11:118527158..118578914hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3851758
hg1951757
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627875
Supporting Variants
SamplesHG02769
Known GenesPHLDB1, TREH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293210
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