Variant Details

Variant: esv2762032

Internal ID

10029382

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr16:55750518..55828800	hg38	UCSC Ensembl
Inner	chr16:55784430..55862712	hg19	UCSC Ensembl
Inner	chr16:54341931..54420213	hg18	UCSC Ensembl

Cytoband

16q12.2

Allele length

Assembly	Allele length
hg38	78283
hg19	78283
hg18	78283

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

dgv52e203

Supporting Variants

essv7001203, essv7001174, essv7001145, essv7001152, essv7001193, essv7001151, essv7001170, essv7001182, essv7001142, essv7001184, essv7001198, essv7001180, essv7001195, essv7001132, essv7001191, essv7001121, essv7001173, essv7001123, essv7001148, essv7001197, essv7001154, essv7001169, essv7001141, essv7001135, essv7001165, essv7001140, essv7001202, essv7001134, essv7001183, essv7001194, essv7001192, essv7001172, essv7001126, essv7001160, essv7001171, essv7001139, essv7001159, essv7001127, essv7001161, essv7001124, essv7001201, essv7001146, essv7001185, essv7001129, essv7001168, essv7001204, essv7001157, essv7001138, essv7001207, essv7001206, essv7001130, essv7001179, essv7001208, essv7001147, essv7001149, essv7001178, essv7001164, essv7001136, essv7001162, essv7001150, essv7001167, essv7001176, essv7001175, essv7001209, essv7001137, essv7001205, essv7001125, essv7001143, essv7001131, essv7001186, essv7001187, essv7001158, essv7001156, essv7001199, essv7001190, essv7001163, essv7001128, essv7001181, essv7001153, essv7001196

Samples

SW_0638, SW_1125, SW_0831, SW_0286, SW_0145, SW_1170, SW_0835, SW_0059, SW_1433, SW_0158, SW_0677, SW_1287, SW_1033, SW_0771, SW_1223, SW_0580, SW_1078, SW_0045, SW_0875, SW_1023, SW_0581, SW_0609, SW_1512, SW_1302, SW_0099, SW_0800, SW_0816, SW_1106, SW_0702, SW_1221, SW_1258, SW_1055, SW_0584, SW_0005, SW_0172, SW_1189, SW_1028, SW_0789, SW_1084, SW_1149, SW_0058, SW_1323, SW_0628, SW_0631, SW_1029, SW_1228, SW_1103, SW_1274, SW_1012, SW_0577, SW_0663, SW_1265, SW_0101, SW_0829, SW_0004, SW_0592, SW_1068, SW_0031, SW_0606, SW_0583, SW_1301, SW_0872, SW_0170, SW_0674, SW_1087, SW_0857, SW_1229, SW_1119, SW_0197, SW_0100, SW_0569

Known Genes

CES1, CES1P1

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)

esv2762032

Frequency

Sample Size	1109
Observed Gain	9
Observed Loss	71
Observed Complex	0
Frequency	n/a