Variant Details

Variant: esv2760941

Internal ID

10028303

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr5:17441518..17707154	hg38	UCSC Ensembl
Inner	chr5:17441627..17707263	hg19	UCSC Ensembl
Inner	chr5:17494627..17739972	hg18	UCSC Ensembl

Cytoband

5p15.1

Allele length

Assembly	Allele length
hg38	265637
hg19	265637
hg18	245346

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7012653, essv7012670, essv7012664, essv7012651, essv7012648, essv7012679, essv7012681, essv7012668, essv7012671, essv7012678, essv7012669, essv7012645, essv7012662, essv7012674, essv7012647, essv7012667, essv7012656, essv7012665, essv7012660, essv7012646, essv7012658, essv7012684, essv7012661, essv7012654, essv7012652, essv7012672, essv7012676, essv7012680, essv7012673, essv7012650, essv7012683, essv7012649, essv7012675, essv7012663, essv7012657, essv7012682, essv7012659

Samples

RW_0660, RW_0071, RW_0148, RW_0538, RW_0258, RW_0634, RW_0152, RW_0178, RW_0354, RW_0243, RW_0226, RW_0096, RW_0614, RW_0626, RW_0241, RW_0603, RW_0548, RW_0017, RW_0528, RW_0233, RW_0111, RW_0541, RW_0197, RW_0185, RW_0552, RW_0666, RW_0222, RW_0320, RW_0068, RW_0669, RW_0200, RW_0186, RW_0190, RW_0232, RW_0132, RW_0119, RW_0574

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)

esv2760941

Frequency

Sample Size	1109
Observed Gain	6
Observed Loss	31
Observed Complex	0
Frequency	n/a