Variant Details

Variant: esv2763905

Internal ID

10031255

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:32102625..32172387	hg38	UCSC Ensembl
Inner	chr5:32102731..32172493	hg19	UCSC Ensembl
Inner	chr5:32138488..32208250	hg18	UCSC Ensembl

Cytoband

5p13.3

Allele length

Assembly	Allele length
hg38	69763
hg19	69763
hg18	69763

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7031003, essv7031031, essv7031013, essv7031025, essv7031008, essv7031037, essv7031007, essv7031019, essv7031035, essv7031021, essv7031011, essv7031038, essv7031002, essv7031026, essv7031036, essv7031004, essv7031020, essv7031005, essv7031010, essv7030999, essv7031015, essv7031029, essv7031018, essv7031006, essv7031022, essv7031016, essv7031028, essv7031027, essv7031000, essv7031033, essv7031009, essv7031017, essv7031030, essv7031032, essv7031014, essv7031024

Samples

SW_1290, SW_1459, SW_0771, SW_1138, SW_1031, SW_1013, SW_1124, SW_0818, SW_1121, SW_0552, SW_0862, SW_0172, SW_1288, SW_0216, SW_1107, SW_0538, SW_0856, SW_1323, SW_0203, SW_0002, SW_1438, SW_1059, SW_0619, SW_1472, SW_0663, SW_1482, SW_0594, SW_0833, SW_0031, SW_1157, SW_1163, SW_1008, SW_0009, SW_0256, SW_1279, SW_1229

Known Genes

GOLPH3, PDZD2

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)

esv2763905

Frequency

Sample Size	1109
Observed Gain	36
Observed Loss	0
Observed Complex	0
Frequency	n/a