A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604547



Internal ID6991575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:30049207..30070508hg38UCSC Ensembl
Innerchr5:30049213..30070503hg38UCSC Ensembl
Outerchr5:30049202..30070514hg38UCSC Ensembl
chr5:30049314..30070615hg19UCSC Ensembl
Innerchr5:30049320..30070610hg19UCSC Ensembl
Outerchr5:30049309..30070621hg19UCSC Ensembl
Cytoband5p13.3
Allele length
AssemblyAllele length
hg3821302
hg1921302
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11853263
SamplesHG00475
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604547
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