A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986984



Internal ID12634355
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108412253hg38UCSC Ensembl
Innerchr2:108540987..109028709hg19UCSC Ensembl
Innerchr2:107907419..108395141hg18UCSC Ensembl
Innerchr2:107999505..108487227hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38487723
hg19487723
hg18487723
hg17487723
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34518
Supporting Variants
SamplesNA18870
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)essv6986984
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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