A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988228



Internal ID12633942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:35064653..35143753hg38UCSC Ensembl
Innerchr22:35460646..35539746hg19UCSC Ensembl
Innerchr22:33790646..33869746hg18UCSC Ensembl
Innerchr22:33785200..33864300hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3879101
hg1979101
hg1879101
hg1779101
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988228
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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