A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979970



Internal ID12634360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:107926646..108488738hg38UCSC Ensembl
Innerchr2:108543102..109105194hg19UCSC Ensembl
Innerchr2:107909534..108471626hg18UCSC Ensembl
Innerchr2:108001620..108563712hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38562093
hg19562093
hg18562093
hg17562093
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34518
Supporting Variants
SamplesNA18870
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)essv6979970
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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