A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979987



Internal ID12634379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107967026..108489026hg38UCSC Ensembl
Innerchr2:108583482..109105482hg19UCSC Ensembl
Innerchr2:107949914..108471914hg18UCSC Ensembl
Innerchr2:108042000..108564000hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38522001
hg19522001
hg18522001
hg17522001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34618
Supporting Variants
SamplesNA18872
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979987
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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