A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11038697



Internal ID552953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:72730924..72736453hg38UCSC Ensembl
chr3:72780075..72785604hg19UCSC Ensembl
Cytoband3p13
Allele length
AssemblyAllele length
hg385530
hg195530
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596543
Supporting Variants
SamplesHG00240
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11038697
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