A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752266



Internal ID12639132
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 StatusM
Merged Variants
Supporting Variantsessv6989642, essv6982528, essv6989643, essv6982530, essv6982529
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
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752266
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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