A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990332



Internal ID12979707
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:12257352..12302052hg38UCSC Ensembl
Innerchr20:12238000..12282700hg19UCSC Ensembl
Innerchr20:12186000..12230700hg18UCSC Ensembl
Innerchr20:12186000..12230700hg17UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg3844701
hg1944701
hg1844701
hg1744701
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34746
Supporting Variants
SamplesNA18500
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990332
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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