A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988516



Internal ID12626812
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:33488460..33537560hg38UCSC Ensembl
Innerchr22:33884446..33933546hg19UCSC Ensembl
Innerchr22:32214446..32263546hg18UCSC Ensembl
Innerchr22:32209000..32258100hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3849101
hg1949101
hg1849101
hg1749101
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751963
Supporting Variants
SamplesBEC_411
Known GenesLARGE
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988516
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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