A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2760048

Internal ID9635507
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr15:84046870..84559840hg38UCSC Ensembl
Innerchr15:84715622..85103071hg19UCSC Ensembl
Innerchr15:82506626..82904075hg18UCSC Ensembl
Innerchr15:82506626..82904075hg17UCSC Ensembl
Allele length
AssemblyAllele length
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2758392, esv2757609
SamplesNA19142, NA19194, NA18871, NA12801, NA18952, NA19120, NA18859, NA19223, NA18545, NA06993, NA18521, NA18529, NA18860, NA18994, NA18524, NA18506, NA18912, NA18624, NA07034, NA10846, NA12864, NA07048, NA18547, NA18976, NA18968, NA12872, NA18942, NA18974, NA18945, NA12146, NA19101, NA19132, NA10838, NA11829, NA19130
Known GenesDNM1P41, EFTUD1P1, GOLGA6L4, GOLGA6L5P, LOC100505679, LOC388152, LOC440300, LOC642423, UBE2Q2P1
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)esv2760048
Sample Size270
Observed Gain30
Observed Loss5
Observed Complex0

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