A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892786



Internal ID18836920
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:8628195..8656246hg38UCSC Ensembl
Outerchr16:8628195..8656246hg38UCSC Ensembl
Innerchr16:8722052..8750103hg19UCSC Ensembl
Outerchr16:8722052..8750103hg19UCSC Ensembl
Innerchr16:8629553..8657604hg18UCSC Ensembl
Outerchr16:8629553..8657604hg18UCSC Ensembl
Cytoband16p13.2
Allele length
AssemblyAllele length
hg3828052
hg1928052
hg1828052
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25784804
Samples
Known GenesMETTL22
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892786
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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