A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3893429



Internal ID18837563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17600825..17678777hg38UCSC Ensembl
Outerchr22:17600825..17678777hg38UCSC Ensembl
Innerchr22:18083591..18161543hg19UCSC Ensembl
Outerchr22:18083591..18161543hg19UCSC Ensembl
Innerchr22:16463591..16541543hg18UCSC Ensembl
Outerchr22:16463591..16541543hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3877953
hg1977953
hg1877953
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25792492
Samples
Known GenesATP6V1E1, BCL2L13
MethodSNP array
Analysis
PlatformIllumina HumanHap 610
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3893429
Frequency
Sample Size3017
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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