Variant Details

Variant: esv2763813

Internal ID

10377849

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:152714582..152808046	hg38	UCSC Ensembl
Inner	chr1:152687058..152780522	hg19	UCSC Ensembl
Inner	chr1:150953682..151047146	hg18	UCSC Ensembl

Cytoband

1q21.3

Allele length

Assembly	Allele length
hg38	93465
hg19	93465
hg18	93465

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7001477, essv7001055, essv7001189, essv7000655, essv7001388, essv7001233, essv7000933, essv7001433, essv7000710, essv7001466, essv7000989, essv7001089, essv7001488, essv7001144, essv7001022, essv7001222, essv7000688, essv7001333, essv7000889, essv7000699, essv7001322, essv7000833, essv7000756, essv7001200, essv7001311, essv7001444, essv7000955, essv7000778, essv7000856, essv7000900, essv7000867, essv7000732, essv7001255, essv7000666, essv7001455, essv7000610, essv7000633, essv7001133, essv7000811, essv7000644, essv7000677, essv7001300, essv7001100, essv7001078, essv7001411, essv7001000, essv7001366, essv7000844, essv7001288, essv7001399, essv7001111, essv7001266, essv7001277, essv7000745, essv7000878, essv7001166, essv7000721, essv7001422, essv7001244, essv7001355, essv7000922, essv7001377, essv7001011, essv7001211, essv7001155, essv7000911, essv7000944, essv7000789, essv7001122, essv7001066, essv7001033, essv7000822, essv7000967, essv7001344, essv7000767, essv7000800, essv7001044, essv7000978, essv7000621, essv7001177

Samples

SW_1224, SW_1372, SW_0636, SW_0832, SW_1366, SW_0145, SW_1459, SW_1298, SW_0885, SW_1535, SW_0072, SW_1188, SW_1168, SW_1396, SW_0846, SW_1407, SW_1304, SW_1387, SW_1132, SW_1184, SW_1097, SW_1058, SW_1293, SW_0353, SW_1013, SW_0099, SW_1431, SW_0869, SW_1285, SW_0121, SW_1167, SW_0646, SW_0060, SW_0048, SW_1419, SW_1469, SW_0172, SW_1468, SW_0830, SW_0817, SW_1009, SW_0268, SW_1523, SW_1358, SW_1102, SW_1333, SW_0803, SW_0789, SW_1053, SW_1034, SW_1323, SW_0628, SW_1171, SW_1029, SW_1274, SW_1012, SW_1072, SW_0165, SW_1501, SW_1278, SW_1415, SW_0775, SW_0618, SW_1176, SW_0339, SW_1368, SW_0379, SW_1332, SW_0833, SW_1067, SW_1517, SW_1116, SW_0872, SW_1096, SW_1045, SW_0170, SW_0243, SW_1308, SW_1279, SW_1281

Known Genes

C1orf68, KPRP, LCE1C, LCE1D, LCE1E, LCE1F

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)

esv2763813

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	80
Observed Complex	0
Frequency	n/a