A curated catalogue of human genomic structural variation




Variant Details

Variant: essv4218709



Internal ID11154561
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:17877234..17877369hg38UCSC Ensembl
chr22:18360000..18360135hg19UCSC Ensembl
chr22:16740000..16740135hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1048298
Supporting Variants
SamplesHuRef
Known GenesMICAL3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv4218709
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