A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15036748



Internal ID1129552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62172067..62265345hg38UCSC Ensembl
chr14:62638785..62732063hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3893279
hg1993279
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634703
Supporting Variants
SamplesHG00851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15036748
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