Variant Details

Variant: esv2090208

Internal ID

7414633

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr1:171210751..171210934	hg38	UCSC Ensembl
Outer	chr1:171210665..171211014	hg38	UCSC Ensembl
Inner	chr1:171179890..171180073	hg19	UCSC Ensembl
Outer	chr1:171179804..171180153	hg19	UCSC Ensembl
Inner	chr1:169446514..169446697	hg18	UCSC Ensembl
Outer	chr1:169446428..169446777	hg18	UCSC Ensembl

Cytoband

1q24.3

Allele length

Assembly	Allele length
hg38	350
hg19	350
hg18	350

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4619517

Samples

NA18507

Known Genes

FMO2

Method

Sequencing

Analysis

Hierarchical clustering of anomalous readpairs was used to identify groupings of five or more readpairs that had a similar size and position. Read pairs were defined as anomalous if they had high-confidence alignments of each individual read that nevertheless were either incorrectly oriented or implied an insert size of at least 3 standard deviations outside the sample median.

Platform

Not specified

Comments

Reference

Bentley_et_al_2008

Pubmed ID

18987734

Accession Number(s)

esv2090208

Frequency

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