Variant Details

Variant: esv2761410

Internal ID

10374208

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:169264736..169286164	hg38	UCSC Ensembl
Inner	chr1:169233974..169255402	hg19	UCSC Ensembl
Inner	chr1:167500598..167522026	hg18	UCSC Ensembl

Cytoband

1q24.2

Allele length

Assembly	Allele length
hg38	21429
hg19	21429
hg18	21429

Variant Type

CNV loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7002256, essv7002645, essv7002700, essv7002023, essv7002289, essv7002190, essv7002489, essv7001744, essv7002112, essv7002079, essv7001968, essv7001934, essv7002345, essv7002500, essv7001857, essv7002456, essv7001788, essv7002223, essv7002578, essv7002278, essv7002234, essv7002301, essv7002101, essv7002467, essv7001868, essv7001777, essv7002412, essv7002134, essv7002012, essv7001990, essv7002667, essv7002523, essv7002445, essv7001945, essv7002045, essv7001832, essv7001843, essv7002423, essv7002201, essv7002600, essv7002367, essv7002156, essv7002434, essv7002212, essv7002167, essv7002001, essv7002634, essv7002400, essv7002589, essv7001901, essv7001879, essv7001923, essv7002178, essv7001766, essv7002312, essv7002034, essv7001821, essv7002267, essv7001799, essv7001755, essv7002356, essv7002056, essv7001890, essv7002545, essv7002389, essv7002067, essv7002511, essv7002611, essv7001956, essv7002656, essv7001810, essv7002478, essv7002145, essv7002378, essv7001979, essv7001912, essv7002567, essv7002123, essv7002622, essv7002090, essv7002689, essv7002334, essv7002678, essv7002711, essv7002534, essv7002556, essv7002245, essv7002323

Samples

SW_1266, SW_0841, SW_0255, SW_1086, SW_1412, SW_0354, SW_0145, SW_0199, SW_1017, SW_1081, SW_0885, SW_1199, SW_0003, SW_1141, SW_0889, SW_0149, SW_1314, SW_1272, SW_0115, SW_1294, SW_1138, SW_0045, SW_0890, SW_1020, SW_0029, SW_0647, SW_1197, SW_0099, SW_0189, SW_0351, SW_0760, SW_0507, SW_0312, SW_1476, SW_0369, SW_1153, SW_0817, SW_0758, SW_1470, SW_1243, SW_0625, SW_0216, SW_1333, SW_1006, SW_1299, SW_1395, SW_0661, SW_1131, SW_1270, SW_0628, SW_0631, SW_0203, SW_1171, SW_0076, SW_0641, SW_1029, SW_1179, SW_1423, SW_0368, SW_1093, SW_1428, SW_0535, SW_0775, SW_1227, SW_1275, SW_0829, SW_0323, SW_1116, SW_0678, SW_1163, SW_1156, SW_1240, SW_1077, SW_1571, SW_0049, SW_1215, SW_1038, SW_0857, SW_0159, SW_1147, SW_0352, SW_1484, SW_0242, SW_1364, SW_1003, SW_1511, SW_0844, SW_1503

Known Genes

NME7

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)

esv2761410

Frequency

Sample Size	1109
Observed Gain	0
Observed Loss	88
Observed Complex	0
Frequency	n/a