A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14928156



Internal ID4929972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21338022..21348666hg38UCSC Ensembl
chr14:21806181..21816825hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3810645
hg1910645
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633711
Supporting Variants
SamplesNA19060
Known GenesRPGRIP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14928156
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