Variant Details

Variant: esv2763032

Internal ID

10030382

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr19:54212971..54336316	hg38	UCSC Ensembl
Inner	chr19:54716840..54847587	hg19	UCSC Ensembl
Inner	chr19:59408652..59539399	hg18	UCSC Ensembl

Cytoband

19q13.42

Allele length

Assembly	Allele length
hg38	123346
hg19	130748
hg18	130748

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7003695, essv7003712, essv7003719, essv7003705, essv7003693, essv7003707, essv7003717, essv7003694, essv7003702, essv7003698, essv7003701, essv7003723, essv7003708, essv7003721, essv7003709, essv7003715, essv7003706, essv7003720, essv7003716, essv7003718, essv7003692, essv7003703, essv7003713, essv7003697, essv7003704, essv7003699, essv7003696, essv7003710, essv7003714

Samples

SW_1027, SW_1427, SW_0158, SW_1114, SW_0353, SW_1023, SW_1258, SW_0650, SW_1253, SW_1288, SW_1165, SW_1358, SW_1414, SW_0044, SW_1072, SW_0017, SW_1094, SW_0663, SW_0653, SW_0254, SW_1139, SW_1083, SW_1077, SW_0822, SW_0579, SW_0857, SW_0842, SW_1073, SW_0837

Known Genes

LILRA3, LILRA4, LILRA5, LILRA6, LILRB2, LILRB3, LILRB5, MIR4752

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)

esv2763032

Frequency

Sample Size	1109
Observed Gain	14
Observed Loss	15
Observed Complex	0
Frequency	n/a