A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14702962



Internal ID4704778
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39648116..39737875hg38UCSC Ensembl
chr13:40222253..40312012hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg3889760
hg1989760
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3631837
Supporting Variants
SamplesHG01938
Known GenesCOG6, MIR4305
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14702962
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