Variant Details

Variant: esv2757766

Internal ID

9633225

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196621707..196992672	hg38	UCSC Ensembl
Inner	chr1:196590837..196961802	hg19	UCSC Ensembl
Inner	chr1:194857460..195228425	hg18	UCSC Ensembl
Inner	chr1:193322494..193693459	hg17	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	370966
hg19	370966
hg18	370966
hg17	370966

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2758990

Supporting Variants

essv17257, essv5527, essv11283, essv22036, essv10137, essv2969, essv12577, essv23383, essv22902, essv12171, essv856, essv24463, essv17545, essv19423, essv17884, essv6595, essv18966, essv17128, essv15828, essv11512, essv4058, essv2513, essv14976, essv23052, essv24414, essv15721, essv582, essv4653, essv23965, essv24041, essv2874, essv10633, essv24869, essv16752, essv21525, essv10333, essv2000, essv9086, essv20000, essv19522, essv16118, essv18122, essv4686, essv2821, essv16415, essv389, essv5234, essv9217, essv10029, essv54, essv17743, essv16638, essv1173, essv5403, essv10557, essv9691, essv16922, essv6144, essv22379

Samples

NA18998, NA18621, NA19204, NA12814, NA18855, NA19098, NA18870, NA12750, NA18563, NA19171, NA12812, NA18635, NA19131, NA07048, NA12762, NA19130, NA18949, NA12005, NA19128, NA11993, NA18951, NA12760, NA12003, NA10831, NA18991, NA18529, NA18503, NA18981, NA19142, NA19000, NA11840, NA12056, NA18532, NA19099, NA12707, NA19101, NA19132, NA18953, NA19003, NA12864, NA10859, NA18913, NA19240, NA19100, NA12873, NA19144, NA18594, NA18971, NA19223, NA19173, NA18987, NA18506, NA12875, NA18872, NA18624, NA19139, NA07000, NA12154, NA18622

Known Genes

CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5

Method

BAC aCGH

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).

Platform

Agilent

Comments

Reference

Redon_et_al_2006

Pubmed ID

17122850

Accession Number(s)

esv2757766

Frequency

Sample Size	270
Observed Gain	37
Observed Loss	22
Observed Complex	0
Frequency	n/a