Variant Details

Variant: essv4815146

Internal ID

7400778

Landmark

Location Information

Type	Coordinates	Assembly	Other Links
Inner	chr11:1950579..1950666	hg38	UCSC Ensembl
Outer	chr11:1950430..1950873	hg38	UCSC Ensembl
Inner	chr11:1971809..1971896	hg19	UCSC Ensembl
Outer	chr11:1971660..1972103	hg19	UCSC Ensembl
Inner	chr11:1928385..1928472	hg18	UCSC Ensembl
Outer	chr11:1928236..1928679	hg18	UCSC Ensembl

Cytoband

11p15.5

Allele length

Assembly	Allele length
hg38	444
hg19	444
hg18	444

Variant Type

CNV deletion

Copy Number

Allele State

Allele Origin

Probe Count

Validation Flag

Merged Status

Merged Variants

esv2041292

Supporting Variants

Samples

NA18507

Known Genes

MRPL23

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)

essv4815146

Frequency

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