Variant Details

Variant: esv2763649

Internal ID

10030999

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr2:86893372..88011471	hg38	UCSC Ensembl
Inner	chr2:87120495..88310990	hg19	UCSC Ensembl
Inner	chr2:86974006..88092105	hg18	UCSC Ensembl

Cytoband

2p11.2

Allele length

Assembly	Allele length
hg38	1118100
hg19	1190496
hg18	1118100

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7015334, essv7015166, essv7015267, essv7015223, essv7015245, essv7015489, essv7015190, essv7015500, essv7015234, essv7015312, essv7015289, essv7015155, essv7015345, essv7015301, essv7015467, essv7015378, essv7015356, essv7015367, essv7015445, essv7015412, essv7015478, essv7015212, essv7015201, essv7015423, essv7015400, essv7015323, essv7015434, essv7015389, essv7015456, essv7015256, essv7015278, essv7015177

Samples

SW_0841, SW_0813, SW_1021, SW_1412, SW_0003, SW_0063, SW_1287, SW_1348, SW_1054, SW_1106, SW_0759, SW_1121, SW_1305, SW_0760, SW_0185, SW_1235, SW_1104, SW_0665, SW_1472, SW_0659, SW_1345, SW_1083, SW_0340, SW_1156, SW_1045, SW_1551, SW_0717, SW_1147, SW_1381, SW_1090, SW_0169, SW_0836

Known Genes

ANAPC1P1, LINC00152, LOC285074, MIR4435-1, MIR4435-2, MIR4771-1, MIR4771-2, PLGLB1, PLGLB2, RGPD1, RGPD2

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)

esv2763649

Frequency

Sample Size	1109
Observed Gain	26
Observed Loss	6
Observed Complex	0
Frequency	n/a