A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982257



Internal ID12626776
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161544512..161669769hg38UCSC Ensembl
Innerchr1:161514302..161639559hg19UCSC Ensembl
Innerchr1:159780926..159906183hg18UCSC Ensembl
Innerchr1:158327357..158371226hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38125258
hg19125258
hg18125258
hg1743870
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750812
Supporting Variants
SamplesBEC_408
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982257
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