A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv153e55



Internal ID20126632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:107924531..108577610hg38UCSC Ensembl
chr2:108540987..109194066hg19UCSC Ensembl
chr2:107907419..108560498hg18UCSC Ensembl
chr2:107999505..108652584hg17UCSC Ensembl
Cytoband2q12.3
Allele length
AssemblyAllele length
hg38653080
hg19653080
hg18653080
hg17653080
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv34618, esv34518
SamplesNA18870, NA18872
Known GenesGCC2, LIMS1, SLC5A7, SULT1C2, SULT1C2P1, SULT1C3, SULT1C4
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)dgv153e55
Frequency
Sample Size771
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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