A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6990431



Internal ID12634380
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107929026..108412026hg38UCSC Ensembl
Innerchr2:108545482..109028482hg19UCSC Ensembl
Innerchr2:107911914..108394914hg18UCSC Ensembl
Innerchr2:108004000..108487000hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38483001
hg19483001
hg18483001
hg17483001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34618
Supporting Variants
SamplesNA18872
Known GenesSLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6990431
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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