A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989642



Internal ID12628440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7433610..8313949hg38UCSC Ensembl
Innerchr8:7291132..8171471hg19UCSC Ensembl
Innerchr8:7278542..8208881hg18UCSC Ensembl
Innerchr8:7278542..8208881hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38880340
hg19880340
hg18930340
hg17930340
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752266
Supporting Variants
SamplesBEC_563
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, FAM66E, FAM86B3P, FAM90A10P, FAM90A7P, MIR548I3, PRR23D1, PRR23D2, SPAG11A, SPAG11B, USP17L3, USP17L8, ZNF705B
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989642
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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