Variant Details

Variant: esv2760083

Internal ID

10027446

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:248442451..248655182	hg38	UCSC Ensembl
Inner	chr1:248605752..248818483	hg19	UCSC Ensembl
Inner	chr1:246672375..246885106	hg18	UCSC Ensembl

Cytoband

1q44

Allele length

Assembly	Allele length
hg38	212732
hg19	212732
hg18	212732

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7007174, essv7007096, essv7007156, essv7007159, essv7007041, essv7007173, essv7007080, essv7007116, essv7007043, essv7007168, essv7007178, essv7007175, essv7007047, essv7007071, essv7007117, essv7007154, essv7007097, essv7007108, essv7007160, essv7007048, essv7007146, essv7007091, essv7007129, essv7007081, essv7007124, essv7007135, essv7007183, essv7007092, essv7007141, essv7007184, essv7007040, essv7007088, essv7007110, essv7007171, essv7007060, essv7007157, essv7007113, essv7007118, essv7007179, essv7007121, essv7007137, essv7007130, essv7007161, essv7007163, essv7007099, essv7007165, essv7007086, essv7007142, essv7007098, essv7007042, essv7007051, essv7007087, essv7007132, essv7007093, essv7007068, essv7007107, essv7007164, essv7007150, essv7007085, essv7007063, essv7007126, essv7007125, essv7007094, essv7007090, essv7007058, essv7007119, essv7007075, essv7007101, essv7007143, essv7007053, essv7007095, essv7007079, essv7007115, essv7007138, essv7007153, essv7007050, essv7007134, essv7007139, essv7007149, essv7007039, essv7007176, essv7007072, essv7007083, essv7007052, essv7007151, essv7007076, essv7007104, essv7007061, essv7007049, essv7007064, essv7007128, essv7007148, essv7007073, essv7007120, essv7007112, essv7007045, essv7007069, essv7007145, essv7007065, essv7007152, essv7007054, essv7007067, essv7007046, essv7007074, essv7007123, essv7007056, essv7007162, essv7007062, essv7007127, essv7007147, essv7007181, essv7007103, essv7007180, essv7007140, essv7007057, essv7007109, essv7007059, essv7007167, essv7007158, essv7007172, essv7007136, essv7007169, essv7007102, essv7007114, essv7007182, essv7007082, essv7007084, essv7007106, essv7007105, essv7007070, essv7007131, essv7007170

Samples

RW_0213, RW_0234, RW_0281, RW_0101, RW_0118, RW_0220, RW_0357, RW_0629, RW_0325, RW_0164, RW_0193, RW_0539, RW_0176, RW_0221, RW_0197, RW_0029, RW_0222, RW_0348, RW_0624, RW_0013, RW_0002, RW_0269, RW_0184, RW_0093, RW_0036, RW_0289, RW_0273, RW_0111, RW_0614, RW_0258, RW_0608, RW_0578, RW_0354, RW_0067, RW_0521, RW_0541, RW_0014, RW_0272, RW_0162, RW_0021, RW_0509, RW_0208, RW_0237, RW_0028, RW_0144, RW_0604, RW_0071, RW_0344, RW_0223, RW_0316, RW_0087, RW_0300, RW_0519, RW_0224, RW_0666, RW_0248, RW_0250, RW_0616, RW_0088, RW_0046, RW_0534, RW_0643, RW_0633, RW_0210, RW_0632, RW_0528, RW_0665, RW_0170, RW_0637, RW_0106, RW_0212, RW_0092, RW_0216, RW_0267, RW_0618, RW_0023, RW_0043, RW_0627, RW_0361, RW_0276, RW_0112, RW_0039, RW_0171, RW_0007, RW_0576, RW_0174, RW_0110, RW_0207, RW_0511, RW_0148, RW_0575, RW_0601, RW_0263, RW_0003, RW_0550, RW_0564, RW_0132, RW_0195, RW_0662, RW_0095, RW_0241, RW_0324, RW_0149, RW_0074, RW_0169, RW_0117, RW_0147, RW_0061, RW_0017, RW_0530, RW_0527, RW_0555, RW_0025, RW_0635, RW_0006, RW_0124, RW_0203, RW_0008, RW_0554, RW_0053, RW_0652, RW_0254, RW_0257, RW_0032, RW_0330, RW_0586, RW_0606, RW_0202

Known Genes

OR2G6, OR2T10, OR2T11, OR2T2, OR2T27, OR2T29, OR2T3, OR2T34, OR2T35, OR2T5

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)

esv2760083

Frequency

Sample Size	1109
Observed Gain	10
Observed Loss	122
Observed Complex	0
Frequency	n/a