A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639099



Internal ID7025882
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75523984..75544656hg38UCSC Ensembl
chr16:75557882..75578554hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3820673
hg1920673
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv536e214
Supporting Variantsessv15523480, essv15523483, essv15523482, essv15523481, essv15523485, essv15523484
SamplesHG01325, HG02721, NA20870, HG02317, HG02814, HG00329
Known GenesCHST5, TMEM231
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639099
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer