A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv8e55



Internal ID20126487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:161493708..161703892hg38UCSC Ensembl
chr1:161463498..161673682hg19UCSC Ensembl
chr1:159730122..159940306hg18UCSC Ensembl
chr1:158276553..158405340hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38210185
hg19210185
hg18210185
hg17128788
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750813, esv2750812, esv2750814
SamplesBEC_531, BEC_408, BEC_425
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7, RPL31P11
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)dgv8e55
Frequency
Sample Size771
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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