A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990362



Internal ID12633435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:46619371..46647024hg38UCSC Ensembl
Innerchr20:45248010..45275663hg19UCSC Ensembl
Innerchr20:44681417..44709070hg18UCSC Ensembl
Innerchr20:44681417..44709070hg17UCSC Ensembl
Cytoband20q13.12
Allele length
AssemblyAllele length
hg3827654
hg1927654
hg1827654
hg1727654
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34663
Supporting Variants
SamplesNA18547
Known GenesSLC13A3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990362
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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