A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986310



Internal ID12627938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:161541155..161688552hg38UCSC Ensembl
Innerchr1:161510945..161658342hg19UCSC Ensembl
Innerchr1:159777569..159924966hg18UCSC Ensembl
Innerchr1:158324000..158390000hg17UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38147398
hg19147398
hg18147398
hg1766001
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2750814
Supporting Variants
SamplesBEC_531
Known GenesFCGR2B, FCGR2C, FCGR3A, FCGR3B, HSPA7, RPL31P11
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6986310
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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