A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14814730



Internal ID2069069
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:80568354..80743298hg38UCSC Ensembl
chr13:81142489..81317433hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38174945
hg19174945
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3632841
Supporting Variants
SamplesHG01883
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14814730
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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