A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639097



Internal ID6679192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:75523984..75544656hg38UCSC Ensembl
chr16:75557882..75578554hg19UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3820673
hg1920673
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15523410, essv15523412, essv15523411, essv15523409
SamplesHG02545, NA20127, HG02108, HG02014
Known GenesCHST5, TMEM231
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639097
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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