A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1459761



Internal ID12622883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19919779..19919779hg38UCSC Ensembl
chr22:19907302..19907302hg19UCSC Ensembl
chr22:18287302..18287302hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4012370
SamplesHuRef
Known GenesTXNRD2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1459761
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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