A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597762



Internal ID6638029
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:130351697..130356734hg38UCSC Ensembl
Innerchr3:130351697..130356734hg38UCSC Ensembl
Outerchr3:130351495..130356794hg38UCSC Ensembl
chr3:130070540..130075577hg19UCSC Ensembl
Innerchr3:130070540..130075577hg19UCSC Ensembl
Outerchr3:130070338..130075637hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg385038
hg195038
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151494
SamplesNA19437
Known GenesCOL6A5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597762
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