A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990125



Internal ID12636558
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:36145777..36183118hg38UCSC Ensembl
Innerchr22:36541825..36579166hg19UCSC Ensembl
Innerchr22:34871771..34909112hg18UCSC Ensembl
Innerchr22:34866325..34903666hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg3837342
hg1937342
hg1837342
hg1737342
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751964
Supporting Variants
SamplesSPC_157
Known GenesAPOL3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990125
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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