A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15014134



Internal ID2745183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:53266047..53305471hg38UCSC Ensembl
chr14:53732765..53772189hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg3839425
hg1939425
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634537
Supporting Variants
SamplesHG02409
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15014134
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