A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15503896



Internal ID5505712
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:70029485..70054508hg38UCSC Ensembl
chr16:70063388..70088411hg19UCSC Ensembl
Cytoband16q22.1
Allele length
AssemblyAllele length
hg3825024
hg1925024
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3638942
Supporting Variants
SamplesNA12272
Known GenesMIR1972-1, MIR1972-2, PDXDC2P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15503896
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