A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979724



Internal ID12633946
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35065353..35164353hg38UCSC Ensembl
Innerchr22:35461346..35560346hg19UCSC Ensembl
Innerchr22:33791346..33890346hg18UCSC Ensembl
Innerchr22:33785900..33884900hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3899001
hg1999001
hg1899001
hg1799001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35003
Supporting Variants
SamplesNA18612
Known GenesISX
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979724
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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