A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10932571



Internal ID5945875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14249646..14254595hg38UCSC Ensembl
Innerchr3:14249646..14254595hg38UCSC Ensembl
Outerchr3:14249370..14254890hg38UCSC Ensembl
chr3:14291146..14296095hg19UCSC Ensembl
Innerchr3:14291146..14296095hg19UCSC Ensembl
Outerchr3:14290870..14296390hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg384950
hg194950
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595366
Supporting Variants
SamplesNA19355
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10932571
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