Variant Details

Variant: esv2764211

Internal ID

10378247

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:110817113..110850883	hg38	UCSC Ensembl
Inner	chr1:111359735..111393505	hg19	UCSC Ensembl
Inner	chr1:111161258..111195028	hg18	UCSC Ensembl

Cytoband

1p13.3

Allele length

Assembly	Allele length
hg38	33771
hg19	33771
hg18	33771

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7006073, essv7006081, essv7006108, essv7006119, essv7006045, essv7006060, essv7006070, essv7006113, essv7006080, essv7006095, essv7006140, essv7006099, essv7006118, essv7006143, essv7006127, essv7006058, essv7006063, essv7006112, essv7006139, essv7006103, essv7006053, essv7006038, essv7006125, essv7006041, essv7006135, essv7006079, essv7006065, essv7006124, essv7006123, essv7006039, essv7006126, essv7006075, essv7006110, essv7006043, essv7006136, essv7006057, essv7006115, essv7006086, essv7006105, essv7006137, essv7006069, essv7006059, essv7006091, essv7006104, essv7006097, essv7006082, essv7006145, essv7006116, essv7006138, essv7006102, essv7006101, essv7006040, essv7006109, essv7006088, essv7006134, essv7006046, essv7006128, essv7006098, essv7006096, essv7006048, essv7006121, essv7006047, essv7006130, essv7006090, essv7006132, essv7006114, essv7006064, essv7006050, essv7006062, essv7006107, essv7006052, essv7006071, essv7006056, essv7006042, essv7006120, essv7006072, essv7006076, essv7006142, essv7006037, essv7006061, essv7006131, essv7006129, essv7006085, essv7006068, essv7006083, essv7006074, essv7006067, essv7006054, essv7006106, essv7006087, essv7006141, essv7006092, essv7006049, essv7006051, essv7006084, essv7006117, essv7006093, essv7006094

Samples

RW_0585, RW_0071, RW_0583, RW_0644, RW_0148, RW_0292, RW_0030, RW_0305, RW_0329, RW_0039, RW_0239, RW_0610, RW_0256, RW_0538, RW_0152, RW_0322, RW_0134, RW_0168, RW_0330, RW_0180, RW_0629, RW_0022, RW_0012, RW_0098, RW_0614, RW_0254, RW_0179, RW_0137, RW_0615, RW_0174, RW_0115, RW_0603, RW_0136, RW_0131, RW_0017, RW_0544, RW_0616, RW_0230, RW_0522, RW_0541, RW_0519, RW_0639, RW_0147, RW_0500, RW_0103, RW_0600, RW_0575, RW_0349, RW_0143, RW_0065, RW_0546, RW_0185, RW_0531, RW_0608, RW_0279, RW_0601, RW_0002, RW_0077, RW_0611, RW_0593, RW_0530, RW_0299, RW_0029, RW_0515, RW_0129, RW_0607, RW_0633, RW_0524, RW_0212, RW_0088, RW_0578, RW_0078, RW_0120, RW_0341, RW_0331, RW_0669, RW_0235, RW_0013, RW_0632, RW_0220, RW_0662, RW_0215, RW_0621, RW_0238, RW_0170, RW_0665, RW_0028, RW_0063, RW_0266, RW_0107, RW_0590, RW_0248, RW_0139, RW_0630, RW_0162

Known Genes

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)

esv2764211

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	95
Observed Complex	0
Frequency	n/a