A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14756123



Internal ID4390924
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59434597..59439227hg38UCSC Ensembl
chr13:60008731..60013361hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg384631
hg194631
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632287
Supporting Variants
SamplesHG03913
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14756123
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