A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981183



Internal ID12626264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:112597..231650hg38UCSC Ensembl
Innerchr5:112712..231765hg19UCSC Ensembl
Innerchr5:165712..284765hg18UCSC Ensembl
Innerchr5:165712..284765hg17UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg38119054
hg19119054
hg18119054
hg17119054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752083
Supporting Variants
SamplesBEC_361
Known GenesCCDC127, LRRC14B, PLEKHG4B, SDHA
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981183
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