A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15359229



Internal ID5361045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1088986..1101109hg38UCSC Ensembl
chr16:1138986..1151109hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812124
hg1912124
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3637603
Supporting Variants
SamplesHG01085
Known GenesC1QTNF8
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15359229
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