A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605158



Internal ID6992186
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:58540363..58550881hg38UCSC Ensembl
Innerchr5:58540365..58550879hg38UCSC Ensembl
Outerchr5:58540361..58550883hg38UCSC Ensembl
chr5:57836190..57846708hg19UCSC Ensembl
Innerchr5:57836192..57846706hg19UCSC Ensembl
Outerchr5:57836188..57846710hg19UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg3810519
hg1910519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11920817, essv11920816, essv11920819, essv11920818
SamplesHG00121, HG03589, HG02688, HG03934
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605158
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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