Variant Details

Variant: esv2761743

Internal ID

10029093

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:45874186..46561071	hg38	UCSC Ensembl
Inner	chr1:46339858..47026743	hg19	UCSC Ensembl
Inner	chr1:46112445..46799330	hg18	UCSC Ensembl

Cytoband

1p33

Allele length

Assembly	Allele length
hg38	686886
hg19	686886
hg18	686886

Variant Type

CNV gain

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv7027779, essv7027790

Samples

SW_1193, SW_1505

Known Genes

DMBX1, FAAH, KNCN, LOC729041, LRRC41, LURAP1, MAST2, MKNK1, MKNK1-AS1, NSUN4, PIK3R3, POMGNT1, RAD54L, TSPAN1, UQCRH

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)

esv2761743

Frequency

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