Variant Details

Variant: dgv105e203

Internal ID

22760801

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
	chr3:68671694..68700200	hg38	UCSC Ensembl
	chr3:68720845..68749351	hg19	UCSC Ensembl
	chr3:68803535..68832041	hg18	UCSC Ensembl

Cytoband

3p14.1

Allele length

Assembly	Allele length
hg38	28507
hg19	28507
hg18	28507

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

esv2760802, esv2763723

Samples

RW_0059, RW_0660, RW_0123, SW_0509, RW_0635, RW_0138, SW_0201, RW_0203, RW_0636, RW_0644, RW_0526, RW_0030, SW_0835, SW_0885, RW_0158, RW_0196, RW_0582, RW_0538, SW_0164, RW_0566, RW_0178, SW_1409, RW_0141, SW_1184, SW_1033, SW_1354, RW_0168, RW_0656, SW_0570, SW_1054, RW_0116, SW_0647, RW_0511, RW_0614, RW_0525, RW_0510, RW_0624, RW_0503, SW_0828, SW_1413, RW_0115, RW_0100, RW_0218, RW_0358, RW_0357, SW_0605, RW_0570, RW_0512, RW_0024, RW_0121, RW_0623, RW_0111, RW_0631, RW_0639, RW_0500, RW_0224, SW_1569, SW_1028, RW_0602, SW_0757, RW_0171, RW_0576, RW_0505, RW_0094, RW_0221, SW_0021, RW_0176, RW_0655, RW_0530, SW_1162, SW_1103, RW_0625, RW_0020, SW_0215, SW_0843, RW_0571, RW_0201, SW_1278, SW_1265, SW_1415, RW_0195, SW_1230, RW_0507, RW_0543, RW_0663, RW_0562, RW_0605, SW_1068, RW_0190, SW_1116, SW_0186, RW_0589, RW_0045, SW_1045, RW_0579, RW_0183, RW_0031, RW_0652, RW_0612, RW_0033, RW_0581, RW_0184, SW_0690, RW_0554, RW_0508, RW_0535, RW_0084, SW_1026, RW_0162, SW_1430, SW_1281

Known Genes

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)

dgv105e203

Frequency

Sample Size	1109
Observed Gain	59
Observed Loss	52
Observed Complex	0
Frequency	n/a