A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14710168



Internal ID6467476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:43820590..43840942hg38UCSC Ensembl
chr13:44394726..44415078hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3820353
hg1920353
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631927
Supporting Variants
SamplesNA20519
Known GenesCCDC122
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14710168
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