Variant Details

Variant: esv2758990

Internal ID

9634449

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196621707..197200642	hg38	UCSC Ensembl
Inner	chr1:196590837..197169772	hg19	UCSC Ensembl
Inner	chr1:194857460..195436395	hg18	UCSC Ensembl
Inner	chr1:193322494..193901429	hg17	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	578936
hg19	578936
hg18	578936
hg17	578936

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2757766, esv2757767, esv2756880

Samples

NA18998, NA18502, NA18621, NA19204, NA18861, NA12814, NA18855, NA18507, NA19145, NA19098, NA18870, NA18526, NA12750, NA18563, NA19171, NA12812, NA19201, NA10854, NA19119, NA18635, NA19131, NA07048, NA12762, NA19138, NA19130, NA18949, NA18611, NA12005, NA19238, NA11994, NA19128, NA11993, NA19007, NA18951, NA19210, NA12760, NA12003, NA10831, NA18956, NA18991, NA18529, NA18871, NA18503, NA11839, NA18981, NA19221, NA19142, NA19000, NA11840, NA12056, NA18532, NA19099, NA12707, NA19101, NA19132, NA10856, NA18953, NA19003, NA12716, NA11881, NA18517, NA12864, NA18863, NA10859, NA18913, NA19240, NA19100, NA12873, NA19144, NA19193, NA12763, NA07055, NA18594, NA19143, NA18971, NA19223, NA19173, NA18987, NA18521, NA18506, NA12875, NA18872, NA18505, NA18624, NA19139, NA07000, NA18522, NA12154, NA18622

Known Genes

ASPM, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, F13B, ZBTB41

Method

BAC aCGH
SNP array

Analysis

Array 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.

Platform

Affymetrix GeneChip Early Access Mapping 500K Set Array (250K_Nsp_SNP)
Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2758990

Frequency

Sample Size	270
Observed Gain	43
Observed Loss	46
Observed Complex	0
Frequency	n/a