A curated catalogue of human genomic structural variation




Variant Details

Variant: esv34518



Internal ID12643869
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107924531..108502026hg38UCSC Ensembl
Innerchr2:108540987..109118482hg19UCSC Ensembl
Innerchr2:107907419..108484914hg18UCSC Ensembl
Innerchr2:107999505..108577000hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38577496
hg19577496
hg18577496
hg17577496
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv153e55
Supporting Variantsessv6979971, essv6986984, essv6979970, essv6986985
SamplesNA18870
Known GenesGCC2, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv34518
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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