A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15501771



Internal ID5503587
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:68770301..68791211hg38UCSC Ensembl
chr16:68804204..68825114hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3820911
hg1920911
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638912
Supporting Variants
SamplesHG00355
Known GenesCDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15501771
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