A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2750813



Internal ID12637679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161493708..161703892hg38UCSC Ensembl
Innerchr1:161463498..161673682hg19UCSC Ensembl
Innerchr1:159730122..159940306hg18UCSC Ensembl
Innerchr1:158276553..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 Variantsdgv8e55
Supporting Variantsessv6982344, essv6982345
SamplesBEC_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
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2750813
Frequency
Sample Size771
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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