A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989734



Internal ID12974830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:25478479..25519879hg38UCSC Ensembl
Innerchr22:25874446..25915846hg19UCSC Ensembl
Innerchr22:24204446..24245846hg18UCSC Ensembl
Innerchr22:24199000..24240400hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3841401
hg1941401
hg1841401
hg1741401
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34716
Supporting Variants
SamplesBEC_543
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989734
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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