Variant Details

Variant: esv2179266

Internal ID

7503691

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:67668689..67668867	hg38	UCSC Ensembl
Outer	chr11:67668596..67668980	hg38	UCSC Ensembl
Inner	chr11:67436160..67436338	hg19	UCSC Ensembl
Outer	chr11:67436067..67436451	hg19	UCSC Ensembl
Inner	chr11:67192736..67192914	hg18	UCSC Ensembl
Outer	chr11:67192643..67193027	hg18	UCSC Ensembl

Cytoband

11q13.2

Allele length

Assembly	Allele length
hg38	385
hg19	385
hg18	385

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

Supporting Variants

essv4624457

Samples

NA18507

Known Genes

ALDH3B2

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)

esv2179266

Frequency

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