A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752265



Internal ID12639131
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 StatusM
Merged Variants
Supporting Variantsessv6984041, essv6984042, essv6987484, essv6988746
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752265
Frequency
Sample Size771
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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