Variant Details

Variant: esv2761832

Internal ID

10374630

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr15:25170021..25261432	hg38	UCSC Ensembl
Inner	chr15:25415168..25506579	hg19	UCSC Ensembl
Inner	chr15:22966261..23057672	hg18	UCSC Ensembl

Cytoband

15q11.2

Allele length

Assembly	Allele length
hg38	91412
hg19	91412
hg18	91412

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv6999817, essv6999814, essv6999820, essv6999808, essv6999813, essv6999809, essv6999816, essv6999810, essv6999819, essv6999818, essv6999815, essv6999806, essv6999807, essv6999812

Samples

SW_0575, SW_1535, SW_0570, SW_0888, SW_0189, SW_0828, SW_1285, SW_0860, SW_1102, SW_0296, SW_0631, SW_0120, SW_0269, SW_0822

Known Genes

PWAR4, SNORD115-1, SNORD115-10, SNORD115-11, SNORD115-12, SNORD115-13, SNORD115-14, SNORD115-15, SNORD115-16, SNORD115-17, SNORD115-18, SNORD115-19, SNORD115-2, SNORD115-20, SNORD115-21, SNORD115-22, SNORD115-23, SNORD115-24, SNORD115-25, SNORD115-26, SNORD115-27, SNORD115-28, SNORD115-29, SNORD115-3, SNORD115-30, SNORD115-31, SNORD115-32, SNORD115-33, SNORD115-34, SNORD115-35, SNORD115-36, SNORD115-37, SNORD115-38, SNORD115-39, SNORD115-4, SNORD115-40, SNORD115-41, SNORD115-42, SNORD115-43, SNORD115-44, SNORD115-5, SNORD115-6, SNORD115-7, SNORD115-8, SNORD115-9

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)

esv2761832

Frequency

Sample Size	1109
Observed Gain	1
Observed Loss	13
Observed Complex	0
Frequency	n/a