Variant Details

Variant: esv2763937

Internal ID

10031287

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr6:26681693..26995155	hg38	UCSC Ensembl
Inner	chr6:26681921..26962934	hg19	UCSC Ensembl
Inner	chr6:26789900..27070913	hg18	UCSC Ensembl

Cytoband

6p22.1

Allele length

Assembly	Allele length
hg38	313463
hg19	281014
hg18	281014

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7031933, essv7031951, essv7031939, essv7031921, essv7031941, essv7031943, essv7031932, essv7031936, essv7031924, essv7031922, essv7031952, essv7031940, essv7031920, essv7031950, essv7031949, essv7031947, essv7031937, essv7031926, essv7031946, essv7031942, essv7031938, essv7031929, essv7031919, essv7031935, essv7031930, essv7031948, essv7031925, essv7031927, essv7031944, essv7031931, essv7031928

Samples

SW_0884, SW_0285, SW_0286, SW_1115, SW_0240, SW_1017, SW_0575, SW_1436, SW_0639, SW_1365, SW_1100, SW_1174, SW_0691, SW_1023, SW_0800, SW_0818, SW_0828, SW_0786, SW_1055, SW_0605, SW_1048, SW_0661, SW_1110, SW_1093, SW_1059, SW_1193, SW_0101, SW_0592, SW_1229, SW_0790, SW_0675

Known Genes

GUSBP2, LINC00240

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)

esv2763937

Frequency

Sample Size	1109
Observed Gain	2
Observed Loss	29
Observed Complex	0
Frequency	n/a