A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982345



Internal ID12626911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161544512..161703892hg38UCSC Ensembl
Innerchr1:161514302..161673682hg19UCSC Ensembl
Innerchr1:159780926..159940306hg18UCSC Ensembl
Innerchr1:158327357..158405340hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38159381
hg19159381
hg18159381
hg1777984
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750813
Supporting Variants
SamplesBEC_425
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7, RPL31P11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982345
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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