A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2759014



Internal ID9634473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:247551283..248159014hg38UCSC Ensembl
Innerchr1:247714585..248322316hg19UCSC Ensembl
Innerchr1:245781208..246388939hg18UCSC Ensembl
Innerchr1:244040626..244648357hg17UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg38607732
hg19607732
hg18607732
hg17607732
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2756895, esv2757780
SamplesNA19127, NA19093, NA06993, NA18632, NA12753, NA18562
Known GenesGCSAML, OR11L1, OR13G1, OR14A16, OR1C1, OR2AK2, OR2G2, OR2G3, OR2L13, OR2L1P, OR2L2, OR2L3, OR2L5, OR2L8, OR2M1P, OR2M5, OR2T8, OR2W3, OR6F1, TRIM58
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)
Agilent
Comments
ReferenceRedon_et_al_2006
Pubmed ID17122850
Accession Number(s)esv2759014
Frequency
Sample Size270
Observed Gain3
Observed Loss3
Observed Complex0
Frequencyn/a


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