A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981633



Internal ID12972430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12383487..12545432hg38UCSC Ensembl
Innerchr8:12240996..12402941hg19UCSC Ensembl
Innerchr8:12285367..12447312hg18UCSC Ensembl
Innerchr8:12285367..12447312hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38161946
hg19161946
hg18161946
hg17161946
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752198
Supporting Variants
SamplesBEC_309
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, LOC100506990, LOC729732
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981633
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