A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984041



Internal ID12630907
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:7378060..8288409hg38UCSC Ensembl
Innerchr8:7235582..8145931hg19UCSC Ensembl
Innerchr8:7222992..8183341hg18UCSC Ensembl
Innerchr8:7222992..8183341hg17UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38910350
hg19910350
hg18960350
hg17960350
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752265
Supporting Variants
SamplesBEC_758
Known GenesDEFB103A, DEFB103B, DEFB104A, DEFB104B, DEFB105A, DEFB105B, DEFB106A, DEFB106B, DEFB107A, DEFB107B, DEFB109P1B, DEFB4A, DEFB4B, 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)essv6984041
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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