A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1435213



Internal ID12251649
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:19136319..19136398hg38UCSC Ensembl
chr22:19123832..19123911hg19UCSC Ensembl
chr22:17503832..17503911hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3880
hg1980
hg1880
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3720923
SamplesHuRef
Known GenesDGCR14
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1435213
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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