Variant Details

Variant: esv2763747

Internal ID

10377783

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:242873365..243119182	hg38	UCSC Ensembl
Inner	chr1:243036667..243282484	hg19	UCSC Ensembl
Inner	chr1:241103290..241349107	hg18	UCSC Ensembl

Cytoband

1q43

Allele length

Assembly	Allele length
hg38	245818
hg19	245818
hg18	245818

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7006044, essv7006089, essv7006022, essv7006033, essv7006144, essv7006122, essv7006066, essv7006111, essv7006000, essv7006133, essv7006078, essv7006011, essv7006155, essv7006100, essv7006055

Samples

SW_0831, SW_1459, SW_1396, SW_1354, SW_1049, SW_0029, SW_1547, SW_1404, SW_1389, SW_0271, SW_1501, SW_1374, SW_0061, SW_1484, SW_1381

Known Genes

LOC731275

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)

esv2763747

Frequency

Sample Size	1109
Observed Gain	14
Observed Loss	1
Observed Complex	0
Frequency	n/a