Variant Details

Variant: dgv90e203

Internal ID

22760786

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr2:241973315..242147305	hg38	UCSC Ensembl
	chr2:242915466..243089456	hg19	UCSC Ensembl
	chr2:242564139..242738129	hg18	UCSC Ensembl

Cytoband

2q37.3

Allele length

Assembly	Allele length
hg38	173991
hg19	173991
hg18	173991

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760659, esv2763646

Samples

SW_1539, SW_1086, SW_1021, SW_1063, SW_0505, SW_0885, SW_1244, SW_1396, SW_0202, SW_1100, SW_1354, SW_0033, SW_0891, SW_0015, SW_0888, SW_1254, SW_0311, SW_1121, SW_0760, SW_0047, SW_1253, SW_0060, SW_1448, SW_0605, SW_1419, SW_0830, SW_1243, SW_1569, SW_1523, SW_0019, SW_1527, SW_1095, SW_1130, RW_0325, SW_1423, SW_1093, SW_1194, SW_0621, RW_0092, SW_1277, SW_0577, SW_0120, SW_1440, SW_1374, SW_1101, SW_0829, RW_0278, SW_0269, SW_0592, SW_1380, SW_0582, SW_0678, SW_1074, SW_1313, SW_1156, SW_0791, SW_1137, SW_1201, SW_1317, SW_1147, SW_0627, SW_1392, SW_1073, SW_0790, SW_0148, SW_1511, SW_0836

Known Genes

LOC728323

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)

dgv90e203

Frequency

Sample Size	1109
Observed Gain	6
Observed Loss	61
Observed Complex	0
Frequency	n/a