A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750812



Internal ID12637678
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161493708..161669769hg38UCSC Ensembl
Innerchr1:161463498..161639559hg19UCSC Ensembl
Innerchr1:159730122..159906183hg18UCSC Ensembl
Innerchr1:158276553..158371226hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38176062
hg19176062
hg18176062
hg1794674
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8e55
Supporting Variantsessv6986119, essv6982257
SamplesBEC_408
Known GenesFCGR2A, FCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA6, HSPA7
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)esv2750812
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer