A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2759890

Internal ID9635349
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30972532..31338170hg38UCSC Ensembl
Innerchr12:31125467..31491104hg19UCSC Ensembl
Innerchr12:31016734..31382371hg18UCSC Ensembl
Innerchr12:31016734..31382371hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2757495, esv2758303
SamplesNA19207, NA18863, NA12043, NA19194, NA18594, NA19192, NA18871, NA18523, NA19173, NA18501, NA19093, NA19120, NA18500, NA18570, NA18516, NA19203, NA18521, NA18953, NA18573, NA12005, NA18855, NA19210, NA18524, NA18949, NA19143, NA18632, NA12865, NA12763, NA18912, NA19211, NA18508, NA18967, NA12155, NA18576, NA18563, NA07345, NA12740, NA18547, NA18973, NA11995, NA19100, NA12751, NA18515, NA19129, NA19094, NA19103, NA19102, NA18502, NA19119, NA19098, NA10856, NA18562, NA18974, NA10857, NA18552, NA19101, NA18995, NA18872, NA12812, NA12156, NA19116, NA11830, NA12003, NA19205, NA10838, NA18852, NA11829, NA19171, NA18853, NA19204, NA18981, NA18913, NA19092
Known GenesDDX11, DDX11-AS1, FAM60A, FLJ13224, TSPAN11
MethodBAC aCGH
SNP array
AnalysisArray images were acquired using an Agilent laser scanner (Agilent Technologies, UK). Fluorescence intensities and log2 ratio values were extracted using Bluefuse software (Bluegnome Ltd).
The algorithm used to call CNVs using the 500K EA platform was developed to accurately define CNV regions using a large set of reference samples and is described in detail in a separate publication (Komura 2006). The algorithm contains three major parts: 1) Intensity pre-processing using an improved version of Genomic Imbalance Map (GIM) (Ishikawa et al. 2005), including probe selection, noise reduction, normalization, and intensity ratio adjustment based on affinity differences between alleles of a SNP, 2) CNV extraction, which identifies CNVs from all pair-wise comparisons using a modified SW-ARRAY, and 3) A copy number inference step which utilizes signal ratios and SNP information to more precisely define CNV boundaries and the copy number within each region.
PlatformAffymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP)
Pubmed ID17122850
Accession Number(s)esv2759890
Sample Size270
Observed Gain71
Observed Loss2
Observed Complex0

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