Variant Details

Variant: esv2760679

Internal ID

10376986

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr20:1569688..1618432	hg38	UCSC Ensembl
Inner	chr20:1550334..1599078	hg19	UCSC Ensembl
Inner	chr20:1498334..1547078	hg18	UCSC Ensembl

Cytoband

20p13

Allele length

Assembly	Allele length
hg38	48745
hg19	48745
hg18	48745

Variant Type

CNV gain+loss

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7026120, essv7026112, essv7026159, essv7026162, essv7026121, essv7026152, essv7026161, essv7026167, essv7026175, essv7026169, essv7026168, essv7026136, essv7026130, essv7026172, essv7026171, essv7026138, essv7026114, essv7026108, essv7026110, essv7026124, essv7026156, essv7026143, essv7026140, essv7026137, essv7026127, essv7026173, essv7026141, essv7026142, essv7026176, essv7026119, essv7026115, essv7026165, essv7026126, essv7026145, essv7026153, essv7026158, essv7026109, essv7026132, essv7026113, essv7026157, essv7026125, essv7026118, essv7026154, essv7026160, essv7026139, essv7026123, essv7026170, essv7026148, essv7026135, essv7026163, essv7026147, essv7026116, essv7026134, essv7026117, essv7026129, essv7026164, essv7026150, essv7026149, essv7026146, essv7026174, essv7026151, essv7026128, essv7026131

Samples

RW_0635, RW_0071, RW_0148, RW_0526, RW_0105, RW_0158, RW_0196, RW_0099, RW_0093, RW_0606, RW_0187, RW_0146, RW_0189, RW_0658, RW_0319, RW_0096, RW_0640, RW_0334, RW_0271, RW_0503, RW_0216, RW_0113, RW_0017, RW_0112, RW_0544, RW_0293, RW_0519, RW_0639, RW_0023, RW_0576, RW_0227, RW_0002, RW_0296, RW_0211, RW_0029, RW_0664, RW_0257, RW_0281, RW_0129, RW_0571, RW_0307, RW_0578, RW_0308, RW_0166, RW_0543, RW_0013, RW_0048, RW_0232, RW_0589, RW_0132, RW_0164, RW_0215, RW_0154, RW_0070, RW_0306, RW_0652, RW_0361, RW_0209, RW_0234, RW_0266, RW_0084, RW_0139, RW_0047

Known Genes

SIRPB1

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)

esv2760679

Frequency

Sample Size	1109
Observed Gain	2
Observed Loss	61
Observed Complex	0
Frequency	n/a