A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979986



Internal ID12634392
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108501771hg38UCSC Ensembl
Innerchr2:108540987..109118227hg19UCSC Ensembl
Innerchr2:107907419..108484659hg18UCSC Ensembl
Innerchr2:107999505..108576745hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38577241
hg19577241
hg18577241
hg17577241
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979986
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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