A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15002742



Internal ID1489257
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:45639032..45720484hg38UCSC Ensembl
chr14:46108235..46189687hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3881453
hg1981453
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634354
Supporting Variants
SamplesHG01369
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15002742
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer