Variant Details

Variant: esv2764178

Internal ID

10378214

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:196758720..196970589	hg38	UCSC Ensembl
Inner	chr1:196727850..196939719	hg19	UCSC Ensembl
Inner	chr1:194994473..195206342	hg18	UCSC Ensembl

Cytoband

1q31.3

Allele length

Assembly	Allele length
hg38	211870
hg19	211870
hg18	211870

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv6e203

Supporting Variants

essv7006917, essv7006872, essv7006903, essv7006910, essv7006849, essv7006908, essv7006846, essv7006838, essv7006920, essv7006865, essv7006864, essv7006820, essv7006897, essv7006919, essv7006925, essv7006836, essv7006899, essv7006812, essv7006906, essv7006921, essv7006834, essv7006832, essv7006814, essv7006861, essv7006857, essv7006893, essv7006871, essv7006808, essv7006841, essv7006858, essv7006890, essv7006850, essv7006888, essv7006845, essv7006837, essv7006823, essv7006825, essv7006848, essv7006821, essv7006873, essv7006886, essv7006909, essv7006807, essv7006862, essv7006915, essv7006843, essv7006870, essv7006851, essv7006826, essv7006813, essv7006818, essv7006885, essv7006827, essv7006829, essv7006880, essv7006815, essv7006859, essv7006881, essv7006902, essv7006898, essv7006810, essv7006891, essv7006875, essv7006828, essv7006866, essv7006924, essv7006918, essv7006883, essv7006831, essv7006816, essv7006819, essv7006852, essv7006860, essv7006839, essv7006923, essv7006905, essv7006876, essv7006913, essv7006895, essv7006853, essv7006912, essv7006840, essv7006869, essv7006817, essv7006879, essv7006914, essv7006868, essv7006877, essv7006854, essv7006916, essv7006847, essv7006904, essv7006884, essv7006874, essv7006809, essv7006835, essv7006882, essv7006894, essv7006887, essv7006896, essv7006901, essv7006863, essv7006842, essv7006892, essv7006830, essv7006907, essv7006824

Samples

RW_0620, RW_0274, RW_0169, RW_0123, RW_0300, RW_0237, RW_0583, RW_0203, RW_0636, RW_0591, RW_0292, RW_0526, RW_0039, RW_0256, RW_0093, RW_0262, RW_0268, RW_0595, RW_0566, RW_0178, RW_0090, RW_0606, RW_0322, RW_0146, RW_0134, RW_0330, RW_0226, RW_0188, RW_0025, RW_0283, RW_0179, RW_0617, RW_0062, RW_0113, RW_0603, RW_0357, RW_0353, RW_0131, RW_0512, RW_0544, RW_0074, RW_0558, RW_0541, RW_0568, RW_0539, RW_0224, RW_0545, RW_0324, RW_0321, RW_0643, RW_0648, RW_0618, RW_0567, RW_0666, RW_0085, RW_0302, RW_0129, RW_0020, RW_0524, RW_0260, RW_0092, RW_0201, RW_0053, RW_0609, RW_0126, RW_0080, RW_0326, RW_0190, RW_0335, RW_0275, RW_0662, RW_0164, RW_0584, RW_0599, RW_0183, RW_0124, RW_0050, RW_0014, RW_0646, RW_0612, RW_0156, RW_0209, RW_0266, RW_0590, RW_0248, RW_0139, RW_0594, RW_0344

Known Genes

CFHR1, CFHR2, CFHR3, CFHR4

Method

Merging

Analysis

Two different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.

Platform

Merging

Comments

Reference

Vogler_et_al_2010

Pubmed ID

21179565

Accession Number(s)

esv2764178

Frequency

Sample Size	1109
Observed Gain	10
Observed Loss	79
Observed Complex	0
Frequency	n/a