A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14868678



Internal ID1572428
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:94666408..94676824hg38UCSC Ensembl
chr13:95318662..95329078hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg3810417
hg1910417
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633234
Supporting Variants
SamplesHG01456
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14868678
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